WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113399305C>A | CA382644836 | ANKK1 | c.1336C>A (p.Leu446Met) c.1369C>A (p.Leu457Met) c.1339C>A (p.Leu447Met) c.1147C>A (p.Leu383Met) c.1366C>A (p.Leu456Met) | |
| 11 | g.113399305C>G | CA382644839 | ANKK1 | c.1336C>G (p.Leu446Val) c.1369C>G (p.Leu457Val) c.1339C>G (p.Leu447Val) c.1147C>G (p.Leu383Val) c.1366C>G (p.Leu456Val) | |
| 11 | g.113399305C>T | CA477042496 | ANKK1 | c.1336C>T (p.Leu446=) c.1369C>T (p.Leu457=) c.1339C>T (p.Leu447=) c.1147C>T (p.Leu383=) c.1366C>T (p.Leu456=) | |
| 11 | g.113399306T>A | CA382644841 | ANKK1 | c.1337T>A (p.Leu446Gln) c.1370T>A (p.Leu457Gln) c.1340T>A (p.Leu447Gln) c.1148T>A (p.Leu383Gln) c.1367T>A (p.Leu456Gln) | gnomAD v4 |
| 11 | g.113399306T>C | CA382644842 | ANKK1 | c.1337T>C (p.Leu446Pro) c.1370T>C (p.Leu457Pro) c.1340T>C (p.Leu447Pro) c.1148T>C (p.Leu383Pro) c.1367T>C (p.Leu456Pro) | |
| 11 | g.113399306T>G | CA382644843 | ANKK1 | c.1337T>G (p.Leu446Arg) c.1370T>G (p.Leu457Arg) c.1340T>G (p.Leu447Arg) c.1148T>G (p.Leu383Arg) c.1367T>G (p.Leu456Arg) | |
| 11 | g.113399307G>A | CA477042500 | ANKK1 | c.1338G>A (p.Leu446=) c.1371G>A (p.Leu457=) c.1341G>A (p.Leu447=) c.1149G>A (p.Leu383=) c.1368G>A (p.Leu456=) | gnomAD v4 |
| 11 | g.113399307G>C | CA477042501 | ANKK1 | c.1338G>C (p.Leu446=) c.1371G>C (p.Leu457=) c.1341G>C (p.Leu447=) c.1149G>C (p.Leu383=) c.1368G>C (p.Leu456=) | |
| 11 | g.113399307G>T | CA477042502 | ANKK1 | c.1338G>T (p.Leu446=) c.1371G>T (p.Leu457=) c.1341G>T (p.Leu447=) c.1149G>T (p.Leu383=) c.1368G>T (p.Leu456=) | gnomAD v4 |
| 11 | g.113399308C>A | CA382644845 | ANKK1 | c.1339C>A (p.Leu447Ile) c.1372C>A (p.Leu458Ile) c.1342C>A (p.Leu448Ile) c.1150C>A (p.Leu384Ile) c.1369C>A (p.Leu457Ile) | gnomAD v4 |
| 11 | g.113399308C= | CA2001152041 | ANKK1 | c.1339C= (p.Leu447=) c.1372C= (p.Leu458=) c.1342C= (p.Leu448=) c.1150C= (p.Leu384=) c.1369C= (p.Leu457=) | |
| 11 | g.113399308C>G | CA382644847 | ANKK1 | c.1339C>G (p.Leu447Val) c.1372C>G (p.Leu458Val) c.1342C>G (p.Leu448Val) c.1150C>G (p.Leu384Val) c.1369C>G (p.Leu457Val) | |
| 11 | g.113399308C>T | CA382644849 | ANKK1 | c.1339C>T (p.Leu447Phe) c.1372C>T (p.Leu458Phe) c.1342C>T (p.Leu448Phe) c.1150C>T (p.Leu384Phe) c.1369C>T (p.Leu457Phe) | dbSNP gnomAD v2 |
| 11 | g.113399309T>A | CA382644852 | ANKK1 | c.1340T>A (p.Leu447His) c.1373T>A (p.Leu458His) c.1343T>A (p.Leu448His) c.1151T>A (p.Leu384His) c.1370T>A (p.Leu457His) | |
| 11 | g.113399309T>C | CA382644853 | ANKK1 | c.1340T>C (p.Leu447Pro) c.1373T>C (p.Leu458Pro) c.1343T>C (p.Leu448Pro) c.1151T>C (p.Leu384Pro) c.1370T>C (p.Leu457Pro) | |
| 11 | g.113399309T>G | CA382644855 | ANKK1 | c.1340T>G (p.Leu447Arg) c.1373T>G (p.Leu458Arg) c.1343T>G (p.Leu448Arg) c.1151T>G (p.Leu384Arg) c.1370T>G (p.Leu457Arg) | |
| 11 | g.113399310C>A | CA477042504 | ANKK1 | c.1341C>A (p.Leu447=) c.1374C>A (p.Leu458=) c.1344C>A (p.Leu448=) c.1152C>A (p.Leu384=) c.1371C>A (p.Leu457=) | |
| 11 | g.113399310C= | CA2001152044 | ANKK1 | c.1341C= (p.Leu447=) c.1374C= (p.Leu458=) c.1344C= (p.Leu448=) c.1152C= (p.Leu384=) c.1371C= (p.Leu457=) | |
| 11 | g.113399310C>G | CA477042505 | ANKK1 | c.1341C>G (p.Leu447=) c.1374C>G (p.Leu458=) c.1344C>G (p.Leu448=) c.1152C>G (p.Leu384=) c.1371C>G (p.Leu457=) | |
| 11 | g.113399310C>T | CA477042506 | ANKK1 | c.1341C>T (p.Leu447=) c.1374C>T (p.Leu458=) c.1344C>T (p.Leu448=) c.1152C>T (p.Leu384=) c.1371C>T (p.Leu457=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.113399311C>A | CA382644857 | ANKK1 | c.1342C>A (p.Leu448Met) c.1375C>A (p.Leu459Met) c.1345C>A (p.Leu449Met) c.1153C>A (p.Leu385Met) c.1372C>A (p.Leu458Met) | gnomAD v4 |
| 11 | g.113399311C= | CA2001152047 | ANKK1 | c.1342C= (p.Leu448=) c.1375C= (p.Leu459=) c.1345C= (p.Leu449=) c.1153C= (p.Leu385=) c.1372C= (p.Leu458=) | |
| 11 | g.113399311C>G | CA382644860 | ANKK1 | c.1342C>G (p.Leu448Val) c.1375C>G (p.Leu459Val) c.1345C>G (p.Leu449Val) c.1153C>G (p.Leu385Val) c.1372C>G (p.Leu458Val) | |
| 11 | g.113399311C>T | CA6280928 | ANKK1 | c.1342C>T (p.Leu448=) c.1375C>T (p.Leu459=) c.1345C>T (p.Leu449=) c.1153C>T (p.Leu385=) c.1372C>T (p.Leu458=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399312T>A | CA382644868 | ANKK1 | c.1343T>A (p.Leu448Gln) c.1376T>A (p.Leu459Gln) c.1346T>A (p.Leu449Gln) c.1154T>A (p.Leu385Gln) c.1373T>A (p.Leu458Gln) | |
| 11 | g.113399312T>C | CA382644863 | ANKK1 | c.1343T>C (p.Leu448Pro) c.1376T>C (p.Leu459Pro) c.1346T>C (p.Leu449Pro) c.1154T>C (p.Leu385Pro) c.1373T>C (p.Leu458Pro) | |
| 11 | g.113399312T>G | CA382644866 | ANKK1 | c.1343T>G (p.Leu448Arg) c.1376T>G (p.Leu459Arg) c.1346T>G (p.Leu449Arg) c.1154T>G (p.Leu385Arg) c.1373T>G (p.Leu458Arg) | |
| 11 | g.113399313G>A | CA477042508 | ANKK1 | c.1344G>A (p.Leu448=) c.1377G>A (p.Leu459=) c.1347G>A (p.Leu449=) c.1155G>A (p.Leu385=) c.1374G>A (p.Leu458=) | gnomAD v4 |
| 11 | g.113399313G>C | CA477042510 | ANKK1 | c.1344G>C (p.Leu448=) c.1377G>C (p.Leu459=) c.1347G>C (p.Leu449=) c.1155G>C (p.Leu385=) c.1374G>C (p.Leu458=) | |
| 11 | g.113399313G= | CA2001152051 | ANKK1 | c.1344G= (p.Leu448=) c.1377G= (p.Leu459=) c.1347G= (p.Leu449=) c.1155G= (p.Leu385=) c.1374G= (p.Leu458=) | |
| 11 | g.113399313G>T | CA477042513 | ANKK1 | c.1344G>T (p.Leu448=) c.1377G>T (p.Leu459=) c.1347G>T (p.Leu449=) c.1155G>T (p.Leu385=) c.1374G>T (p.Leu458=) | dbSNP gnomAD v4 |
| 11 | g.113399314G>A | CA382644870 | ANKK1 | c.1345G>A (p.Asp449Asn) c.1378G>A (p.Asp460Asn) c.1348G>A (p.Asp450Asn) c.1156G>A (p.Asp386Asn) c.1375G>A (p.Asp459Asn) | dbSNP gnomAD v2 |
| 11 | g.113399314G>C | CA382644872 | ANKK1 | c.1345G>C (p.Asp449His) c.1378G>C (p.Asp460His) c.1348G>C (p.Asp450His) c.1156G>C (p.Asp386His) c.1375G>C (p.Asp459His) | |
| 11 | g.113399314G= | CA2001152053 | ANKK1 | c.1345G= (p.Asp449=) c.1378G= (p.Asp460=) c.1348G= (p.Asp450=) c.1156G= (p.Asp386=) c.1375G= (p.Asp459=) | |
| 11 | g.113399314G>T | CA382644874 | ANKK1 | c.1345G>T (p.Asp449Tyr) c.1378G>T (p.Asp460Tyr) c.1348G>T (p.Asp450Tyr) c.1156G>T (p.Asp386Tyr) c.1375G>T (p.Asp459Tyr) | |
| 11 | g.113399315A= | CA2001152057 | ANKK1 | c.1346A= (p.Asp449=) c.1379A= (p.Asp460=) c.1349A= (p.Asp450=) c.1157A= (p.Asp386=) c.1376A= (p.Asp459=) | |
| 11 | g.113399315A>C | CA382644876 | ANKK1 | c.1346A>C (p.Asp449Ala) c.1379A>C (p.Asp460Ala) c.1349A>C (p.Asp450Ala) c.1157A>C (p.Asp386Ala) c.1376A>C (p.Asp459Ala) | |
| 11 | g.113399315A>G | CA382644878 | ANKK1 | c.1346A>G (p.Asp449Gly) c.1379A>G (p.Asp460Gly) c.1349A>G (p.Asp450Gly) c.1157A>G (p.Asp386Gly) c.1376A>G (p.Asp459Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399315A>T | CA382644880 | ANKK1 | c.1346A>T (p.Asp449Val) c.1379A>T (p.Asp460Val) c.1349A>T (p.Asp450Val) c.1157A>T (p.Asp386Val) c.1376A>T (p.Asp459Val) | |
| 11 | g.113399316C>A | CA382644882 | ANKK1 | c.1347C>A (p.Asp449Glu) c.1380C>A (p.Asp460Glu) c.1350C>A (p.Asp450Glu) c.1158C>A (p.Asp386Glu) c.1377C>A (p.Asp459Glu) | |
| 11 | g.113399316C= | CA2001152060 | ANKK1 | c.1347C= (p.Asp449=) c.1380C= (p.Asp460=) c.1350C= (p.Asp450=) c.1158C= (p.Asp386=) c.1377C= (p.Asp459=) | |
| 11 | g.113399316C>G | CA382644884 | ANKK1 | c.1347C>G (p.Asp449Glu) c.1380C>G (p.Asp460Glu) c.1350C>G (p.Asp450Glu) c.1158C>G (p.Asp386Glu) c.1377C>G (p.Asp459Glu) | |
| 11 | g.113399316C>T | CA477042516 | ANKK1 | c.1347C>T (p.Asp449=) c.1380C>T (p.Asp460=) c.1350C>T (p.Asp450=) c.1158C>T (p.Asp386=) c.1377C>T (p.Asp459=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399317C>A | CA382644886 | ANKK1 | c.1348C>A (p.His450Asn) c.1381C>A (p.His461Asn) c.1351C>A (p.His451Asn) c.1159C>A (p.His387Asn) c.1378C>A (p.His460Asn) | gnomAD v4 |
| 11 | g.113399317C= | CA2001152065 | ANKK1 | c.1348C= (p.His450=) c.1381C= (p.His461=) c.1351C= (p.His451=) c.1159C= (p.His387=) c.1378C= (p.His460=) | |
| 11 | g.113399317C>G | CA382644889 | ANKK1 | c.1348C>G (p.His450Asp) c.1381C>G (p.His461Asp) c.1351C>G (p.His451Asp) c.1159C>G (p.His387Asp) c.1378C>G (p.His460Asp) | gnomAD v4 |
| 11 | g.113399317C>T | CA6280929 | ANKK1 | c.1348C>T (p.His450Tyr) c.1381C>T (p.His461Tyr) c.1351C>T (p.His451Tyr) c.1159C>T (p.His387Tyr) c.1378C>T (p.His460Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399318A>C | CA382644897 | ANKK1 | c.1349A>C (p.His450Pro) c.1382A>C (p.His461Pro) c.1352A>C (p.His451Pro) c.1160A>C (p.His387Pro) c.1379A>C (p.His460Pro) | |
| 11 | g.113399318A>G | CA382644895 | ANKK1 | c.1349A>G (p.His450Arg) c.1382A>G (p.His461Arg) c.1352A>G (p.His451Arg) c.1160A>G (p.His387Arg) c.1379A>G (p.His460Arg) | |
| 11 | g.113399318A>T | CA382644893 | ANKK1 | c.1349A>T (p.His450Leu) c.1382A>T (p.His461Leu) c.1352A>T (p.His451Leu) c.1160A>T (p.His387Leu) c.1379A>T (p.His460Leu) |