Q9NY28
PR
Gene name |
GALNT8 |
Protein name |
Probable polypeptide N-acetylgalactosaminyltransferase 8 |
Names |
Polypeptide GalNAc transferase 8, GalNAc-T8, pp-GaNTase 8, Protein-UDP acetylgalactosaminyltransferase 8, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26290 |
EC number |
2.4.1.41: Hexosyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9NY28
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NY28-F1 | Predicted | AlphaFoldDB |
585 variants for Q9NY28
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6398410 rs199804344 |
2 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 4 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766309626 CA6398411 |
8 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217963985 CA383434187 |
9 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 9 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6398412 rs774240184 |
10 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA231826271 rs530622053 |
10 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA6398413 rs759534547 |
11 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767293598 CA6398414 |
13 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383434318 rs1438180105 |
15 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1391026069 CA383434368 |
19 | I>V | No |
ClinGen TOPMed |
|
|
CA6398419 rs182926653 |
20 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6398420 rs780417674 |
21 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6398421 rs747277653 |
22 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383434427 COSM222231 rs1386553179 |
23 | L>F | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 24 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297831104 CA383434517 |
27 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 28 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748666877 CA6398426 |
30 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs748666877 CA6398427 |
30 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1225603708 CA383434602 |
30 | K>N | No |
ClinGen gnomAD |
|
|
rs1375828820 CA383434619 |
31 | G>E | No |
ClinGen TOPMed |
|
|
COSM939715 CA383434626 rs1375828820 |
31 | G>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 32 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6398429 rs773387890 |
33 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA6398428 rs773387890 |
33 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA383434680 rs1323506927 |
34 | Q>* | No |
ClinGen gnomAD |
|
|
COSM939716 rs151313517 CA6398431 |
38 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767334135 CA6398433 |
39 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs775335645 CA6398434 |
40 | G>D | No |
ClinGen ExAC |
|
|
rs1459250026 CA383434817 |
41 | L>H | No |
ClinGen TOPMed |
|
|
CA383434836 rs1252385647 |
42 | H>R | No |
ClinGen gnomAD |
|
|
CA383434846 rs1196719462 |
43 | R>G | No |
ClinGen gnomAD |
|
|
CA383434872 rs1427956232 |
44 | E>K | No |
ClinGen gnomAD |
|
|
rs150045663 CA6398438 |
46 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6398437 rs753293598 |
46 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6398439 rs764801435 |
47 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383434948 rs750085240 |
48 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398440 rs750085240 |
48 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383434942 rs1378059554 |
48 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1335475175 CA383434977 |
49 | L>P | No |
ClinGen TOPMed |
|
|
rs755355121 CA383434961 |
49 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383435003 rs1330279841 |
51 | K>* | No |
ClinGen TOPMed |
|
|
CA383435005 rs1330279841 |
51 | K>E | No |
ClinGen TOPMed |
|
|
CA6398442 rs201036640 |
52 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748634870 CA6398443 |
52 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs748634870 CA231826454 |
52 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA383435077 CA6398446 rs749316788 |
53 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs10849133 VAR_019581 CA6398444 |
53 | Y>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs10849133 CA6398445 VAR_019582 |
53 | Y>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs187433578 CA6398448 |
54 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6398449 rs187433578 |
54 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6398450 rs771799204 |
55 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398451 rs775310870 |
56 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383435115 rs1399043941 |
56 | V>L | No |
ClinGen gnomAD |
|
|
CA6398452 rs760625126 |
57 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383435218 rs1565582024 |
61 | S>F | No |
ClinGen Ensembl |
|
|
CA383435207 rs1281350655 |
61 | S>P | No |
ClinGen TOPMed |
|
|
CA231826529 CA383435256 rs937159001 |
63 | L>F | No |
ClinGen gnomAD |
|
|
CA231826530 rs916618726 |
64 | E>G | No |
ClinGen Ensembl |
|
|
CA6398458 rs750083784 |
67 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1161921781 CA383435342 |
68 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA383435899 rs1307613638 |
68 | Q>R | No |
ClinGen TOPMed |
|
|
rs1591561425 CA383435924 |
69 | D>V | No |
ClinGen Ensembl |
|
|
rs980381938 CA231826553 |
69 | D>Y | No |
ClinGen TOPMed |
|
|
CA6398459 rs762626292 |
70 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs377244953 CA6398461 |
71 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 76 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6398481 rs769219584 |
76 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1427198077 CA383438273 |
77 | A>G | No |
ClinGen TOPMed |
|
|
CA383438312 rs1450997642 |
79 | R>S | No |
ClinGen gnomAD |
|
|
rs772729270 CA6398482 |
84 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA383438513 rs1187433078 |
89 | K>Q | No |
ClinGen TOPMed |
|
|
CA6398484 rs765991960 |
90 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs751256280 CA6398485 |
91 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764536125 CA6398487 |
93 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754440838 CA6398488 |
96 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6398489 rs146496646 |
96 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383438656 rs146496646 |
96 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243499342 CA383438686 COSM311364 |
98 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1205284552 CA383438772 |
102 | M>K | No |
ClinGen Ensembl |
|
| TCGA novel | 103 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446192993 CA383438817 |
104 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 106 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189911184 CA383438858 |
106 | V>M | No |
ClinGen gnomAD |
|
|
rs1469692465 CA383438948 |
110 | K>E | No |
ClinGen gnomAD |
|
|
rs750457209 CA6398491 |
111 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs148918218 CA231830698 |
112 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA231830702 rs969017874 |
113 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs780388433 CA6398493 |
113 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 113 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406981304 CA383439055 |
114 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs747219258 CA6398494 |
114 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383439051 rs1406981304 |
114 | T>S | No |
ClinGen TOPMed |
|
|
rs976962855 CA231830707 |
115 | Q>* | No |
ClinGen gnomAD |
|
|
rs976962855 CA383439066 |
115 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780926406 CA6398496 |
115 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1239213285 CA383439099 |
116 | M>T | No |
ClinGen gnomAD |
|
|
rs748107145 CA6398497 |
116 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA231830724 rs1029834340 |
118 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs368553308 CA6398500 |
119 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6398502 rs772603603 |
120 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398501 rs772603603 |
120 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770337527 CA6398503 |
121 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA6398506 rs138633886 |
127 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1254028259 CA383439366 |
128 | W>R | No |
ClinGen gnomAD |
|
|
rs1166505236 CA383439500 |
133 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383439544 rs1395388936 |
136 | Q>P | No |
ClinGen gnomAD |
|
|
CA6398510 rs141779145 |
137 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758561340 CA6398511 |
138 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA383439607 rs766345836 |
139 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766345836 CA6398512 |
139 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780979745 CA383439654 |
141 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs780979745 CA6398515 |
141 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA383439662 rs1325581430 |
141 | Q>R | No |
ClinGen gnomAD |
|
|
rs1194695041 CA383439678 |
142 | D>Y | No |
ClinGen TOPMed |
|
|
rs747873403 CA6398516 |
143 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228064197 COSM1704914 CA383439748 |
145 | R>Q | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs923931005 CA231830809 |
145 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 146 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383439828 rs1339024823 |
149 | Y>C | No |
ClinGen gnomAD |
|
|
rs1254186671 CA383439841 |
150 | N>D | No |
ClinGen gnomAD |
|
|
rs34532073 CA231830849 |
150 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA231830869 rs547136904 |
151 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398523 rs547136904 |
151 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398521 rs760898970 |
151 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760898970 CA6398520 |
151 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6398522 rs547136904 |
151 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591563498 CA383439892 |
152 | Y>S | No |
ClinGen Ensembl |
|
|
rs920394667 CA231830888 |
154 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777136613 CA6398526 |
155 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA383439960 rs777136613 |
155 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs777136613 CA383439953 |
155 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6398527 rs12579353 |
156 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs765505117 CA6398528 |
160 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398530 rs138649928 |
161 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374608722 CA6398531 |
161 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6398533 rs755199203 |
162 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383440115 rs1591563524 |
162 | T>P | No |
ClinGen Ensembl |
|
|
rs541964675 CA231830962 |
165 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs541964675 CA6398536 |
165 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA383440202 rs1277121224 |
165 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1277121224 CA383440204 |
165 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM939725 rs201255097 CA231830971 |
166 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs139038516 CA6398538 |
167 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757089155 CA6398539 |
167 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778576473 CA6398540 |
168 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261578228 CA383440276 |
168 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 168 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383440324 rs1205279493 |
169 | Y>* | No |
ClinGen TOPMed |
|
|
rs745306971 CA6398541 |
169 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs749682765 CA6398573 |
172 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs143866477 CA6398576 |
173 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6398575 rs143866477 COSM1512111 |
173 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6398574 rs34806567 |
173 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1465394512 CA383443801 |
176 | Y>C | No |
ClinGen TOPMed |
|
|
CA6398577 rs772174529 |
176 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6398578 rs775387005 |
177 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6398579 rs775387005 |
177 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6398580 rs764151230 |
178 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1479441668 CA383443854 |
179 | Q>* | No |
ClinGen gnomAD |
|
|
rs776904195 CA6398581 |
179 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250655876 CA383443882 |
180 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6398582 rs761755086 |
181 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA383443950 rs1197474698 |
183 | L>R | No |
ClinGen TOPMed |
|
|
rs199682031 CA6398584 |
184 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs929693777 CA231837833 |
185 | V>I | No |
ClinGen TOPMed |
|
|
CA383443989 rs1428433705 |
186 | I>T | No |
ClinGen gnomAD |
|
|
CA383444001 rs1470189679 |
187 | L>F | No |
ClinGen gnomAD |
|
|
rs758369740 CA6398585 |
187 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA383444005 rs758369740 |
187 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6398586 rs765936738 |
188 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398587 rs750967785 |
189 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780766378 CA383444037 |
190 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398589 rs780766378 |
190 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747779351 CA6398590 |
191 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA231837909 rs1042723830 |
193 | A>T | No |
ClinGen Ensembl |
|
|
rs757661714 CA6398591 |
196 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs757661714 CA383444110 |
196 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM4150117 rs148594027 CA6398592 |
197 | I>T | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA383444149 rs1274353321 |
199 | R>Q | No |
ClinGen TOPMed |
|
|
rs181113647 CA6398593 |
199 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 200 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6398594 rs576971845 |
200 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6398595 rs372004098 |
201 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383444167 rs1274844677 |
201 | I>V | No |
ClinGen gnomAD |
|
|
rs369783290 CA6398597 |
203 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1478300235 CA383444186 |
203 | S>R | No |
ClinGen gnomAD |
|
|
rs376912313 CA6398599 |
204 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs115397261 CA6398598 |
204 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA231837947 rs752597969 |
206 | N>S | No |
ClinGen Ensembl |
|
|
rs773092794 CA6398601 |
207 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765153686 CA6398600 |
207 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398603 rs762988879 |
208 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398602 rs762988879 |
208 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367686870 CA6398605 |
209 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1345481084 CA383444221 |
210 | S>A | No |
ClinGen gnomAD |
|
|
rs200454053 CA383444225 |
211 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200454053 CA6398606 |
211 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 211 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111635477 CA231838011 |
215 | E>K | No |
ClinGen Ensembl |
|
|
rs755711656 CA6398608 |
218 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383444272 rs752375758 |
218 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779258345 CA6398609 |
219 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6398610 rs746169265 |
220 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6398612 rs554342354 |
223 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1438632244 CA383431048 |
225 | N>D | No |
ClinGen TOPMed |
|
|
rs1457143596 CA383432862 |
227 | E>G | No |
ClinGen gnomAD |
|
|
rs752039751 CA6398633 |
229 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1245938262 CA383432934 |
231 | H>R | No |
ClinGen TOPMed |
|
|
CA6398635 rs200630669 |
231 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748304510 CA6398636 |
233 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA383433004 rs1449659595 |
234 | E>G | No |
ClinGen gnomAD |
|
|
CA6398637 RCV000965880 rs16931676 VAR_033947 |
234 | E>K | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA231800855 rs978252403 |
236 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6398639 rs749493830 |
242 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383433200 rs1487738949 |
244 | P>A | No |
ClinGen gnomAD |
|
|
rs894891820 CA383433214 |
245 | G>* | No |
ClinGen gnomAD |
|
|
rs34687270 CA6398640 |
245 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs894891820 CA231800863 |
245 | G>R | No |
ClinGen gnomAD |
|
|
rs34687270 CA231800885 |
245 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6398641 rs774144132 |
248 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 248 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 248 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6398643 rs771975196 |
249 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs775406245 CA6398644 |
250 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs763575305 COSM88558 CA6398646 |
251 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs150412211 CA6398645 COSM371278 |
251 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA231800930 rs868126140 |
253 | P>S | No |
ClinGen Ensembl |
|
|
CA6398647 rs150401504 |
254 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6398648 rs761488313 |
256 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA231800937 rs1027328890 |
261 | A>G | No |
ClinGen gnomAD |
|
|
CA6398650 COSM3954806 rs138133023 |
262 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138133023 CA231800945 |
262 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6398651 rs149118193 |
262 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA231800973 rs149118193 |
262 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138133023 CA383433545 |
262 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1005154768 CA383433569 |
263 | N>D | No |
ClinGen gnomAD |
|
|
rs1005154768 CA231800984 |
263 | N>H | No |
ClinGen gnomAD |
|
|
CA6398652 rs781779147 |
265 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1343549162 CA383433654 |
266 | W>* | No |
ClinGen gnomAD |
|
|
CA383433647 rs144849314 |
266 | W>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144849314 CA6398653 |
266 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
VAR_019583 rs34776842 CA6398654 |
267 | E>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1202425771 CA383433731 |
268 | A>D | No |
ClinGen gnomAD |
|
|
rs777958253 CA6398655 |
268 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs749492367 CA6398656 |
269 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383433778 rs1294531017 |
270 | T>I | No |
ClinGen TOPMed |
|
|
CA383433760 rs1591568929 |
270 | T>P | No |
ClinGen Ensembl |
|
|
CA6398658 rs778573508 |
271 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA383433868 rs1591568938 |
273 | V>G | No |
ClinGen Ensembl |
|
|
CA6398660 rs771845589 |
273 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1591568955 CA383433883 |
274 | V>G | No |
ClinGen Ensembl |
|
|
CA231801053 rs886503126 |
274 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA383433888 rs746921515 |
275 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746921515 CA6398662 |
275 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768188014 CA6398663 |
275 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1309288979 CA383433895 |
276 | I>V | No |
ClinGen gnomAD |
|
|
CA6398666 rs764878560 |
279 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6398668 rs772736194 |
283 | V>A | No |
ClinGen ExAC |
|
|
rs372830083 CA6398669 |
284 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6398670 rs376084995 |
286 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383434188 rs1206019930 |
287 | W>* | No |
ClinGen gnomAD |
|
|
CA383434181 rs1591568981 |
287 | W>G | No |
ClinGen Ensembl |
|
|
rs1377229761 CA383434481 |
288 | A>E | No |
ClinGen gnomAD |
|
|
rs1313487960 CA383434515 |
289 | E>D | No |
ClinGen gnomAD |
|
|
CA383434513 rs1395573264 |
289 | E>V | No |
ClinGen gnomAD |
|
|
rs1288267343 CA383434559 |
291 | I>M | No |
ClinGen TOPMed |
|
|
rs1323536189 CA383434550 |
291 | I>V | No |
ClinGen gnomAD |
|
|
CA383434580 rs1417754002 |
292 | L>F | No |
ClinGen TOPMed |
|
|
CA6398699 COSM693784 rs375631897 |
294 | R>Q | lung Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202166380 COSM1207865 CA6398698 |
294 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA383434660 rs1330252047 |
295 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748003437 CA6398701 |
296 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs769376293 CA6398702 |
297 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs777097267 CA6398703 |
299 | R>C | No |
ClinGen ExAC |
|
|
COSM1361876 rs200878740 CA6398704 |
299 | R>H | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770639044 CA6398705 |
300 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1424527620 CA383435791 |
300 | T>S | No |
ClinGen TOPMed |
|
|
rs1261097138 CA383435797 |
301 | V>M | No |
ClinGen TOPMed |
|
|
CA231801642 rs113760665 |
303 | V>A | No |
ClinGen gnomAD |
|
|
rs1181383790 CA383435831 COSM939795 |
303 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs761176369 CA6398708 |
307 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA383435970 rs1465756583 |
309 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA383435969 rs1465756583 |
309 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6398709 rs768884325 |
309 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6398710 rs777239325 |
311 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs552198819 CA6398711 |
311 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_019584 CA6398712 rs34829532 |
312 | F>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1351630437 CA383436061 |
314 | T>A | No |
ClinGen gnomAD |
|
|
rs1263372200 CA383436086 |
315 | F>C | No |
ClinGen TOPMed |
|
|
rs1230681444 CA383436104 |
316 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1276910320 CA383436128 |
317 | L>P | No |
ClinGen gnomAD |
|
|
rs368307712 CA231801696 |
318 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1210413854 CA383436140 |
318 | D>N | No |
ClinGen gnomAD |
|
|
CA231801697 rs932059047 |
320 | Y>C | No |
ClinGen TOPMed |
|
|
rs141673328 CA6398714 |
321 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1473513268 CA383436246 |
323 | A>E | No |
ClinGen gnomAD |
|
|
CA6398715 rs766654520 |
323 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA383436255 rs1424227600 |
324 | V>I | No |
ClinGen gnomAD |
|
|
rs1433492485 CA383436290 |
325 | D>G | No |
ClinGen gnomAD |
|
|
rs1177058405 CA383436308 |
326 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780809250 CA6398718 |
328 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398719 rs752700493 |
329 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371113811 CA6398721 |
330 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6398720 rs201387598 |
330 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383436426 rs1412261447 |
331 | L>F | No |
ClinGen gnomAD |
|
|
rs748870767 CA6398722 |
331 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA383436423 rs1412261447 |
331 | L>V | No |
ClinGen gnomAD |
|
|
CA6398724 rs150516489 |
334 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6398725 rs150516489 |
334 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769100382 CA6398726 COSM3384396 |
334 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs776814579 CA6398727 |
335 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA231801815 rs889362347 |
335 | Y>H | No |
ClinGen Ensembl |
|
|
rs548487494 CA6398730 |
336 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1411607350 CA383436545 |
336 | D>G | No |
ClinGen gnomAD |
|
|
rs71579265 CA6398729 |
336 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6398731 VAR_019585 rs199920896 |
337 | A>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA6398734 rs759628903 COSM1188421 |
339 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs375249963 CA6398733 |
339 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6398735 rs767356616 |
340 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1444111296 CA383436645 |
341 | A>D | No |
ClinGen gnomAD |
|
|
rs1168153923 CA383436636 |
341 | A>T | No |
ClinGen gnomAD |
|
|
CA6398736 rs761230355 |
343 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231801863 rs766729946 |
344 | D>G | No |
ClinGen Ensembl |
|
|
CA383436731 rs1431643071 |
345 | L>V | No |
ClinGen gnomAD |
|
|
CA383436767 rs777911247 |
346 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777911247 CA6398738 |
346 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383436779 rs1437691590 |
347 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1295619194 CA383436817 |
348 | V>D | No |
ClinGen gnomAD |
|
| TCGA novel | 348 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6398740 rs537275921 |
350 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1278828357 CA383436903 |
352 | V>A | No |
ClinGen TOPMed |
|
|
CA6398741 rs778531344 |
352 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 352 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200990801 CA6398742 |
353 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs118149916 CA6398757 |
354 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 355 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749839024 CA6398759 |
357 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757922931 CA6398761 |
358 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398760 rs757922931 |
358 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM107063 rs142567239 CA231802428 |
359 | G>D | pancreas Variant assessed as Somatic; impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1209118062 CA383437180 |
359 | G>S | No |
ClinGen gnomAD |
|
|
rs1057486024 CA231802442 |
364 | N>H | No |
ClinGen Ensembl |
|
|
CA6398765 rs778061982 |
368 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6398766 rs568448627 |
370 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383437574 rs71579269 |
372 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6398768 rs71579269 |
372 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369501360 CA6398771 |
373 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6398772 rs760914822 |
375 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1386738179 CA383437638 |
375 | D>Y | No |
ClinGen gnomAD |
|
|
CA6398773 rs764006932 |
379 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231802524 rs888477389 |
380 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6398774 rs142410021 RCV000906014 |
381 | Y>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6398775 rs142410021 |
381 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA231802558 rs762500548 |
383 | G>R | No |
ClinGen TOPMed |
|
|
CA383437861 rs750363187 |
386 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398777 rs750363187 |
386 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383442747 rs1249464834 |
392 | V>M | No |
ClinGen TOPMed |
|
|
rs1591573755 CA383442788 |
395 | C>G | No |
ClinGen Ensembl |
|
|
CA231812963 rs1039301407 |
395 | C>Y | No |
ClinGen Ensembl |
|
|
rs751013055 CA6398799 |
396 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591573764 CA383442819 |
398 | K>E | No |
ClinGen Ensembl |
|
|
CA6398800 rs759042813 |
398 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs186503466 CA6398802 |
400 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1299880294 COSM939809 CA383442880 |
403 | P>S | endometrium haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs750919954 CA6398806 |
405 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6398808 COSM239946 rs373711782 |
406 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6398807 rs750358554 |
406 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145805938 CA6398809 |
409 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA231813064 rs773653105 |
413 | H>Q | No |
ClinGen gnomAD |
|
|
rs1354836774 CA383442985 |
413 | H>R | No |
ClinGen gnomAD |
|
|
CA6398810 rs768844170 |
413 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1268519750 CA383443006 |
415 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1470059724 CA383443020 |
416 | P>S | No |
ClinGen gnomAD |
|
|
COSM3688215 rs73264336 CA383443039 |
417 | Y>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA383443030 rs1186285085 |
417 | Y>H | No |
ClinGen gnomAD |
|
|
CA6398814 rs373419543 COSM548610 |
418 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6398813 rs373419543 |
418 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA231813108 rs1024292090 |
420 | D>Y | No |
ClinGen Ensembl |
|
|
rs377567116 CA6398815 |
421 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770967813 CA6398816 |
422 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383443095 rs766726075 |
423 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3812119 CA6398818 rs766726075 |
423 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1033563546 CA231813135 |
424 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA383443111 rs1432552665 |
424 | A>V | No |
ClinGen gnomAD |
|
|
CA383443130 rs1238340278 |
426 | K>R | No |
ClinGen TOPMed |
|
|
rs142857763 CA6398820 |
427 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142857763 CA6398821 |
427 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765535951 CA6398822 COSM939810 |
427 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs143807268 CA6398823 |
428 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs963237641 CA231813140 |
428 | N>Y | No |
ClinGen Ensembl |
|
|
CA6398824 rs200902818 |
431 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6398825 rs766971985 |
431 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231813208 rs987230661 |
432 | V>A | No |
ClinGen gnomAD |
|
|
CA6398828 rs781382912 |
434 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231813233 rs998110366 |
436 | W>* | No |
ClinGen TOPMed |
|
|
rs1408349615 CA383443242 |
437 | M>T | No |
ClinGen TOPMed |
|
|
CA231813234 rs1029461791 |
437 | M>V | No |
ClinGen TOPMed |
|
|
rs559663039 CA6398830 VAR_019586 |
438 | D>G | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
rs756291725 CA6398831 |
440 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs777851092 CA6398832 |
440 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749166176 CA6398833 |
442 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943020133 CA231813290 |
443 | M>I | No |
ClinGen Ensembl |
|
|
rs774308714 CA6398835 |
443 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771590048 CA6398837 |
445 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771590048 CA383443343 |
445 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398839 rs760326905 |
447 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1395521667 CA383443370 |
448 | W>R | No |
ClinGen gnomAD |
|
|
rs763877686 CA6398840 |
449 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6398841 rs140915911 |
450 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752145439 CA6398845 |
451 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398844 rs766622102 |
451 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6398847 rs61758971 |
453 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383443501 rs1281885057 |
455 | S>P | No |
ClinGen gnomAD |
|
|
rs761333196 CA6398862 |
456 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383443506 rs1481752083 |
456 | G>R | No |
ClinGen gnomAD |
|
|
CA383443516 rs1591574524 |
457 | I>M | No |
ClinGen Ensembl |
|
|
rs766873811 CA6398863 |
457 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1376346279 CA383443519 |
458 | D>Y | No |
ClinGen TOPMed |
|
|
CA231814775 rs34743826 |
459 | F>I | No |
ClinGen Ensembl |
|
|
CA6398865 rs774800223 |
461 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA383443538 rs1481526782 |
461 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA231814776 rs1011779990 |
462 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA383443566 rs1396984698 |
465 | R>T | No |
ClinGen gnomAD |
|
|
rs144204056 CA6398868 |
466 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372477539 CA383443589 |
469 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383443592 rs1444876363 |
469 | R>Q | No |
ClinGen gnomAD |
|
|
CA6398870 rs372477539 |
469 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386525357 CA383443597 |
470 | E>G | No |
ClinGen gnomAD |
|
|
CA6398871 rs764036229 |
471 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA383443617 rs1434984904 |
473 | K>R | No |
ClinGen TOPMed |
|
|
rs370583462 CA6398874 |
475 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs914455892 CA231814885 |
475 | K>R | No |
ClinGen Ensembl |
|
|
CA231814912 rs1035331646 |
478 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6398875 rs750288370 |
479 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA383443667 rs1591574584 |
480 | Y>S | No |
ClinGen Ensembl |
|
|
rs746889625 CA6398878 |
481 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6398877 rs780018727 |
481 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258013823 CA383443680 |
482 | K>* | No |
ClinGen TOPMed |
|
|
CA6398880 rs768244210 |
484 | V>F | No |
ClinGen ExAC |
|
|
CA383443756 rs1245931692 |
488 | L>S | No |
ClinGen gnomAD |
|
|
rs1245931692 CA383443757 |
488 | L>W | No |
ClinGen gnomAD |
|
|
CA383443849 rs1284113670 |
494 | I>T | No |
ClinGen TOPMed |
|
|
rs1468709134 CA383443842 |
494 | I>V | No |
ClinGen gnomAD |
|
|
CA383443858 rs1255124759 |
495 | V>M | No |
ClinGen gnomAD |
|
|
rs573950650 CA6398882 |
496 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383443893 rs1354493223 |
497 | Y>C | No |
ClinGen TOPMed |
|
|
CA231814970 rs552155418 |
498 | G>A | No |
ClinGen gnomAD |
|
|
CA383443909 rs552155418 |
498 | G>E | No |
ClinGen gnomAD |
|
|
CA231814973 rs906982093 |
499 | R>I | No |
ClinGen Ensembl |
|
|
rs1420900499 CA383443932 |
499 | R>S | No |
ClinGen gnomAD |
|
|
rs1186636191 CA383444296 |
500 | M>T | No |
ClinGen TOPMed |
|
|
rs780760383 CA6398899 |
501 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6398900 rs747668034 |
502 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263106355 CA383444316 |
503 | L>V | No |
ClinGen TOPMed |
|
|
rs1565390002 CA383444324 |
504 | L>W | No |
ClinGen Ensembl |
|
|
CA383444346 rs1167506190 |
507 | N>I | No |
ClinGen gnomAD |
|
|
rs769404263 CA6398901 |
508 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215493913 CA383444351 |
508 | V>I | No |
ClinGen TOPMed |
|
|
CA383444362 rs1318502906 |
509 | C>* | No |
ClinGen gnomAD |
|
|
CA383444371 rs748909241 |
511 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA231815485 rs748909241 |
511 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6398903 rs748909241 |
511 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772583402 CA6398904 |
513 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6398907 rs1468556 VAR_019587 |
515 | V>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6398908 rs1468556 |
515 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383444396 rs1468556 |
515 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383444409 rs1328467544 |
517 | G>D | No |
ClinGen TOPMed |
|
|
CA6398910 rs765274502 |
519 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383444422 rs765274502 |
519 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231815532 rs866434135 |
519 | T>P | No |
ClinGen Ensembl |
|
|
CA231815539 rs765274502 |
519 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773454741 CA6398911 |
522 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6398912 rs763113344 |
523 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1190636454 CA383444471 |
526 | H>R | No |
ClinGen gnomAD |
|
|
rs1410229514 CA383444489 |
528 | F>L | No |
ClinGen gnomAD |
|
|
rs1469885460 CA383444498 |
529 | S>R | No |
ClinGen gnomAD |
|
|
rs1400140258 CA383444500 |
530 | S>P | No |
ClinGen TOPMed |
|
|
CA383444533 rs1371491913 |
533 | V>F | No |
ClinGen gnomAD |
|
|
CA231816576 rs190584465 |
535 | Y>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA383444554 rs1395176251 |
536 | H>Y | No |
ClinGen gnomAD |
|
|
rs1177060568 CA383444577 |
540 | E>* | No |
ClinGen TOPMed |
|
|
CA383444582 rs1468912498 |
540 | E>G | No |
ClinGen TOPMed |
|
|
rs1435972266 CA383444588 |
541 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1435972266 CA383444589 |
541 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs143060598 CA6398932 |
542 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6398933 rs143060598 |
542 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs931901451 CA231816584 |
542 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6398934 rs143060598 |
542 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA231816592 rs961147596 |
543 | V>A | No |
ClinGen Ensembl |
|
|
CA383444596 rs1329088462 |
543 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383444608 rs1434596819 |
545 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA383444606 rs1434596819 |
545 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6398936 rs763168250 |
548 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM693775 rs144271473 CA6398937 |
550 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA6398938 rs1555070809 |
552 | A>T | No |
ClinGen Ensembl |
|
|
rs757863710 CA231816607 |
553 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6398942 rs759287934 |
554 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148196108 CA6398943 |
555 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6398944 rs756053265 COSM1476591 |
555 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs756053265 CA6398945 |
555 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6398946 rs368641438 |
560 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA231816617 rs985499217 |
561 | G>S | No |
ClinGen TOPMed |
|
|
CA6398947 rs756775420 |
563 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756775420 COSM292567 CA383444723 |
563 | A>V | large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs145999043 CA6398950 |
564 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383444724 rs1455230339 |
564 | E>K | No |
ClinGen gnomAD |
|
|
rs781571524 CA6398951 |
565 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781571524 CA383444735 |
565 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383444749 rs1169519430 |
567 | T>S | No |
ClinGen gnomAD |
|
|
CA383444769 rs1388314136 |
570 | P>R | No |
ClinGen gnomAD |
|
|
CA383444772 rs1325548351 |
571 | C>R | No |
ClinGen gnomAD |
|
|
rs1410650304 CA383444798 |
574 | A>V | No |
ClinGen TOPMed |
|
|
CA383444813 rs1472736589 |
577 | N>H | No |
ClinGen TOPMed |
|
|
CA383444833 rs1256360015 |
580 | H>N | No |
ClinGen TOPMed |
|
|
CA6398957 rs771010629 |
580 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6398959 rs759754741 |
581 | I>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000890017 rs73264342 CA6398958 |
581 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs924103907 CA383444848 |
582 | Y>C | No |
ClinGen TOPMed |
|
|
rs924103907 CA231816681 |
582 | Y>S | No |
ClinGen TOPMed |
|
|
CA383444861 rs1213430605 |
584 | D>Y | No |
ClinGen gnomAD |
|
|
rs147793802 CA6398961 |
587 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6398960 rs147793802 |
587 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1479349490 CA383446244 |
588 | G>R | No |
ClinGen TOPMed |
|
|
CA6398995 rs202052686 |
589 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760593392 CA6398996 |
590 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1419916941 CA383446289 |
591 | V>F | No |
ClinGen gnomAD |
|
|
rs1205113865 CA383446300 |
592 | I>V | No |
ClinGen TOPMed |
|
|
rs1393348248 CA383446317 |
593 | N>D | No |
ClinGen gnomAD |
|
|
CA383446322 rs1434178370 |
593 | N>S | No |
ClinGen gnomAD |
|
|
CA231821351 rs867117701 |
595 | D>N | No |
ClinGen Ensembl |
|
|
rs768543421 CA6398998 |
596 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768543421 CA383446374 |
596 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383446387 rs1440514166 |
597 | K>T | No |
ClinGen gnomAD |
|
|
CA383446403 rs1374451872 |
598 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs776743784 CA6398999 |
598 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576017644 CA231821365 |
599 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6399000 rs576017644 |
599 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA231821370 rs79309898 |
601 | E>* | No |
ClinGen Ensembl |
|
|
rs866701227 CA231821374 |
601 | E>G | No |
ClinGen Ensembl |
|
|
CA231821390 rs867409011 |
605 | D>N | No |
ClinGen Ensembl |
|
|
rs1234370335 CA383446555 |
607 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6399002 rs764667938 |
607 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA6399003 rs749882742 |
608 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6399005 rs34114277 VAR_019588 RCV000957045 |
611 | V>M | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6399006 rs751179432 |
612 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481452481 CA383446628 |
612 | L>V | No |
ClinGen gnomAD |
|
|
CA383446641 rs1251361034 |
613 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs200854626 CA231821444 |
614 | L>F | No |
ClinGen 1000Genomes |
|
|
rs756501168 CA6399007 |
614 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1395340304 CA383446668 |
615 | Q>* | No |
ClinGen TOPMed |
|
|
CA383446690 rs1157877156 |
616 | T>I | No |
ClinGen TOPMed |
|
|
CA6399010 rs757712247 |
618 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779279390 CA6399011 |
618 | S>R | No |
ClinGen ExAC |
|
|
rs150884069 CA6399012 |
619 | T>M | No |
ClinGen ESP gnomAD |
|
|
CA6399015 rs758527457 |
620 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6399017 rs747196334 |
621 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6399019 rs776510741 |
622 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA383446815 rs1305014615 |
623 | E>G | No |
ClinGen gnomAD |
|
|
CA383446829 rs1212779744 |
624 | I>F | No |
ClinGen TOPMed |
|
|
CA231821487 rs971366732 |
625 | Q>* | No |
ClinGen TOPMed |
|
|
rs1359178684 CA383446865 |
625 | Q>H | No |
ClinGen gnomAD |
|
|
CA383446867 rs1213919958 |
626 | H>N | No |
ClinGen gnomAD |
|
|
rs200214398 CA231821500 |
627 | T>I | No |
ClinGen Ensembl |
|
|
CA383446902 rs1309099494 |
628 | V>I | No |
ClinGen gnomAD |
|
|
CA383446943 rs16931692 |
630 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_049241 CA6399023 rs16931692 |
630 | D>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773013554 CA6399024 |
632 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs762575212 CA6399025 |
632 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383447000 rs1300145085 CA383446998 |
633 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA383447011 rs1214502394 |
634 | T>N | No |
ClinGen gnomAD |
|
|
rs1591577677 CA383447002 |
634 | T>P | No |
ClinGen Ensembl |
|
|
rs765833129 CA383447024 |
635 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6399026 rs765833129 |
635 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs909367941 CA231821566 |
636 | S>R | No |
ClinGen TOPMed |
|
|
CA383447035 rs1354141892 |
636 | S>R | No |
ClinGen TOPMed |
|
|
CA6399027 rs774012065 |
637 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6399029 rs764441963 |
637 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6399028 rs150012521 |
637 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q9NY28
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.41 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| metal ion binding | Binding to a metal ion. |
| polypeptide N-acetylgalactosaminyltransferase activity | Catalysis of the reaction: UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. This reaction is the modification of serine or threonine residues in polypeptide chains by the transfer of a N-acetylgalactose from UDP-N-acetylgalactose to the hydroxyl group of the amino acid; it is the first step in O-glycan biosynthesis. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| O-glycan processing | The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form a core O-glycan structure. |
| protein O-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q07537 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Bos taurus (Bovine) | PR |
| Q6WV16 | Pgant6 | N-acetylgalactosaminyltransferase 6 | Drosophila melanogaster (Fruit fly) | PR |
| Q6WV17 | Pgant5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y117 | Pgant3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Drosophila melanogaster (Fruit fly) | PR |
| Q7Z7M9 | GALNT5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Homo sapiens (Human) | PR |
| Q86SF2 | GALNT7 | N-acetylgalactosaminyltransferase 7 | Homo sapiens (Human) | PR |
| Q86SR1 | GALNT10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Homo sapiens (Human) | PR |
| Q49A17 | GALNTL6 | Polypeptide N-acetylgalactosaminyltransferase-like 6 | Homo sapiens (Human) | PR |
| Q8IUC8 | GALNT13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Homo sapiens (Human) | PR |
| Q96FL9 | GALNT14 | Polypeptide N-acetylgalactosaminyltransferase 14 | Homo sapiens (Human) | PR |
| Q10471 | GALNT2 | Polypeptide N-acetylgalactosaminyltransferase 2 | Homo sapiens (Human) | PR |
| Q8IXK2 | GALNT12 | Polypeptide N-acetylgalactosaminyltransferase 12 | Homo sapiens (Human) | PR |
| Q14435 | GALNT3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Homo sapiens (Human) | PR |
| Q10472 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Homo sapiens (Human) | PR |
| O08912 | Galnt1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Mus musculus (Mouse) | PR |
| P70419 | Galnt3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Mus musculus (Mouse) | PR |
| Q921L8 | Galnt11 | Polypeptide N-acetylgalactosaminyltransferase 11 | Mus musculus (Mouse) | PR |
| Q8BGT9 | Galnt12 | Polypeptide N-acetylgalactosaminyltransferase 12 | Mus musculus (Mouse) | PR |
| Q8CF93 | Galnt13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Mus musculus (Mouse) | PR |
| Q29121 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Sus scrofa (Pig) | PR |
| Q925R7 | Galnt10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Rattus norvegicus (Rat) | PR |
| O88422 | Galnt5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Rattus norvegicus (Rat) | PR |
| Q10473 | Galnt1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q6UE39 | Galnt13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Rattus norvegicus (Rat) | PR |
| Q7K755 | gly-11 | Putative polypeptide N-acetylgalactosaminyltransferase 11 | Caenorhabditis elegans | PR |
| P34678 | gly-3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMFWRKLPKA | LFIGLTLAIA | VNLLLVFSSK | GTLQNLFTGG | LHRELPLHLN | KRYGAVIKRL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SHLEVELQDL | KESMKLALRQ | QENVNSTLKR | AKDEVRPLLK | AMETKVNETK | KHKTQMKLFP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HSQLFRQWGE | DLSEAQQKAA | QDLFRKFGYN | AYLSNQLPLN | RTIPDTRDYR | CLRKTYPSQL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PSLSVILIFV | NEALSIIQRA | ITSIINRTPS | RLLKEIILVD | DFSSNGELKV | HLDEKIKLYN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QKYPGLLKII | RHPERKGLAQ | ARNTGWEAAT | ADVVAILDAH | IEVNVGWAEP | ILARIQEDRT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VIVSPVFDNI | RFDTFKLDKY | ELAVDGFNWE | LWCRYDALPQ | AWIDLHDVTA | PVKSPSIMGI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAANRHFLGE | IGSLDGGMLI | YGGENVELSL | RVWQCGGKVE | ILPCSRIAHL | ERHHKPYALD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LTAALKRNAL | RVAEIWMDEH | KHMVYLAWNI | PLQNSGIDFG | DVSSRMALRE | KLKCKTFDWY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LKNVYPLLKP | LHTIVGYGRM | KNLLDENVCL | DQGPVPGNTP | IMYYCHEFSS | QNVYYHLTGE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LYVGQLIAEA | SASDRCLTDP | GKAEKPTLEP | CSKAAKNRLH | IYWDFKPGGA | VINRDTKRCL |
| 610 | 620 | 630 | |||
| EMKKDLLGSH | VLVLQTCSTQ | VWEIQHTVRD | WGQTNSQ |