UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18786051C>A | CA404884655 | COMP | c.1403G>T (p.Cys468Phe) c.1244G>T (p.Cys415Phe) c.1304G>T (p.Cys435Phe) | ClinVar dbSNP |
| 19 | g.18786051C= | CA2326525547 | COMP | c.1403G= (p.Cys468=) c.1244G= (p.Cys415=) c.1304G= (p.Cys435=) | |
| 19 | g.18786051C>G | CA404884657 | COMP | c.1403G>C (p.Cys468Ser) c.1244G>C (p.Cys415Ser) c.1304G>C (p.Cys435Ser) | ClinVar dbSNP |
| 19 | g.18786051C>T | CA254701 | COMP | c.1403G>A (p.Cys468Tyr) c.1244G>A (p.Cys415Tyr) c.1304G>A (p.Cys435Tyr) | ClinVar dbSNP |
| 19 | g.18786052A>C | CA404884658 | COMP | c.1402T>G (p.Cys468Gly) c.1243T>G (p.Cys415Gly) c.1303T>G (p.Cys435Gly) | |
| 19 | g.18786052A>G | CA404884659 | COMP | c.1402T>C (p.Cys468Arg) c.1243T>C (p.Cys415Arg) c.1303T>C (p.Cys435Arg) | ClinVar |
| 19 | g.18786052A>T | CA404884661 | COMP | c.1402T>A (p.Cys468Ser) c.1243T>A (p.Cys415Ser) c.1303T>A (p.Cys435Ser) | |
| 19 | g.18786053G>A | CA506117449 | COMP | c.1401C>T (p.Ala467=) c.1242C>T (p.Ala414=) c.1302C>T (p.Ala434=) | gnomAD v4 |
| 19 | g.18786053G>C | CA506117448 | COMP | c.1401C>G (p.Ala467=) c.1242C>G (p.Ala414=) c.1302C>G (p.Ala434=) | |
| 19 | g.18786053G>T | CA506117451 | COMP | c.1401C>A (p.Ala467=) c.1242C>A (p.Ala414=) c.1302C>A (p.Ala434=) | |
| 19 | g.18786054G>A | CA404884670 | COMP | c.1400C>T (p.Ala467Val) c.1241C>T (p.Ala414Val) c.1301C>T (p.Ala434Val) | |
| 19 | g.18786054G>C | CA404884666 | COMP | c.1400C>G (p.Ala467Gly) c.1241C>G (p.Ala414Gly) c.1301C>G (p.Ala434Gly) | |
| 19 | g.18786054G>T | CA404884665 | COMP | c.1400C>A (p.Ala467Asp) c.1241C>A (p.Ala414Asp) c.1301C>A (p.Ala434Asp) | |
| 19 | g.18786055C>A | CA9316428 | COMP | c.1399G>T (p.Ala467Ser) c.1240G>T (p.Ala414Ser) c.1300G>T (p.Ala434Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786055C= | CA2326525548 | COMP | c.1399G= (p.Ala467=) c.1240G= (p.Ala414=) c.1300G= (p.Ala434=) | |
| 19 | g.18786055C>G | CA404884681 | COMP | c.1399G>C (p.Ala467Pro) c.1240G>C (p.Ala414Pro) c.1300G>C (p.Ala434Pro) | |
| 19 | g.18786055C>T | CA404884685 | COMP | c.1399G>A (p.Ala467Thr) c.1240G>A (p.Ala414Thr) c.1300G>A (p.Ala434Thr) | |
| 19 | g.18786056A>C | CA404884689 | COMP | c.1398T>G (p.Asp466Glu) c.1239T>G (p.Asp413Glu) c.1299T>G (p.Asp433Glu) | |
| 19 | g.18786056A>G | CA506117454 | COMP | c.1398T>C (p.Asp466=) c.1239T>C (p.Asp413=) c.1299T>C (p.Asp433=) | gnomAD v4 |
| 19 | g.18786056A>T | CA404884690 | COMP | c.1398T>A (p.Asp466Glu) c.1239T>A (p.Asp413Glu) c.1299T>A (p.Asp433Glu) | |
| 19 | g.18786057del | CA2576725780 | COMP | c.1397del (p.Asp466ValfsTer?) c.1238del (p.Asp413ValfsTer?) c.1298del (p.Asp433ValfsTer?) | |
| 19 | g.18786057T>A | CA404884692 | COMP | c.1397A>T (p.Asp466Val) c.1238A>T (p.Asp413Val) c.1298A>T (p.Asp433Val) | |
| 19 | g.18786057T>C | CA404884694 | COMP | c.1397A>G (p.Asp466Gly) c.1238A>G (p.Asp413Gly) c.1298A>G (p.Asp433Gly) | |
| 19 | g.18786057T>G | CA404884695 | COMP | c.1397A>C (p.Asp466Ala) c.1238A>C (p.Asp413Ala) c.1298A>C (p.Asp433Ala) | |
| 19 | g.18786058C>A | CA404884702 | COMP | c.1396G>T (p.Asp466Tyr) c.1237G>T (p.Asp413Tyr) c.1297G>T (p.Asp433Tyr) | |
| 19 | g.18786058C>G | CA404884704 | COMP | c.1396G>C (p.Asp466His) c.1237G>C (p.Asp413His) c.1297G>C (p.Asp433His) | |
| 19 | g.18786058C>T | CA404884711 | COMP | c.1396G>A (p.Asp466Asn) c.1237G>A (p.Asp413Asn) c.1297G>A (p.Asp433Asn) | |
| 19 | g.18786059A>C | CA506117456 | COMP | c.1395T>G (p.Gly465=) c.1236T>G (p.Gly412=) c.1296T>G (p.Gly432=) | |
| 19 | g.18786059A>G | CA506117457 | COMP | c.1395T>C (p.Gly465=) c.1236T>C (p.Gly412=) c.1296T>C (p.Gly432=) | |
| 19 | g.18786059A>T | CA506117459 | COMP | c.1395T>A (p.Gly465=) c.1236T>A (p.Gly412=) c.1296T>A (p.Gly432=) | |
| 19 | g.18786060C>A | CA404884725 | COMP | c.1394G>T (p.Gly465Val) c.1235G>T (p.Gly412Val) c.1295G>T (p.Gly432Val) | ClinVar dbSNP |
| 19 | g.18786060C>G | CA404884718 | COMP | c.1394G>C (p.Gly465Ala) c.1235G>C (p.Gly412Ala) c.1295G>C (p.Gly432Ala) | |
| 19 | g.18786060C>T | CA404884715 | COMP | c.1394G>A (p.Gly465Asp) c.1235G>A (p.Gly412Asp) c.1295G>A (p.Gly432Asp) | |
| 19 | g.18786061C>A | CA404884728 | COMP | c.1393G>T (p.Gly465Cys) c.1234G>T (p.Gly412Cys) c.1294G>T (p.Gly432Cys) | |
| 19 | g.18786061C>G | CA404884729 | COMP | c.1393G>C (p.Gly465Arg) c.1234G>C (p.Gly412Arg) c.1294G>C (p.Gly432Arg) | |
| 19 | g.18786061C>T | CA404884730 | COMP | c.1393G>A (p.Gly465Ser) c.1234G>A (p.Gly412Ser) c.1294G>A (p.Gly432Ser) | ClinVar dbSNP |
| 19 | g.18786062C>A | CA404884731 | COMP | c.1392G>T (p.Gln464His) c.1233G>T (p.Gln411His) c.1293G>T (p.Gln431His) | |
| 19 | g.18786062C>G | CA404884733 | COMP | c.1392G>C (p.Gln464His) c.1233G>C (p.Gln411His) c.1293G>C (p.Gln431His) | gnomAD v4 |
| 19 | g.18786062C>T | CA506117460 | COMP | c.1392G>A (p.Gln464=) c.1233G>A (p.Gln411=) c.1293G>A (p.Gln431=) | gnomAD v4 |
| 19 | g.18786063T>A | CA404884737 | COMP | c.1391A>T (p.Gln464Leu) c.1232A>T (p.Gln411Leu) c.1292A>T (p.Gln431Leu) | |
| 19 | g.18786063T>C | CA404884736 | COMP | c.1391A>G (p.Gln464Arg) c.1232A>G (p.Gln411Arg) c.1292A>G (p.Gln431Arg) | |
| 19 | g.18786063T>G | CA404884735 | COMP | c.1391A>C (p.Gln464Pro) c.1232A>C (p.Gln411Pro) c.1292A>C (p.Gln431Pro) | |
| 19 | g.18786064G>A | CA404884739 | COMP | c.1390C>T (p.Gln464Ter) c.1231C>T (p.Gln411Ter) c.1291C>T (p.Gln431Ter) | |
| 19 | g.18786064G>C | CA404884744 | COMP | c.1390C>G (p.Gln464Glu) c.1231C>G (p.Gln411Glu) c.1291C>G (p.Gln431Glu) | |
| 19 | g.18786064G>T | CA404884748 | COMP | c.1390C>A (p.Gln464Lys) c.1231C>A (p.Gln411Lys) c.1291C>A (p.Gln431Lys) | |
| 19 | g.18786065G>A | CA506117462 | COMP | c.1389C>T (p.Gly463=) c.1230C>T (p.Gly410=) c.1290C>T (p.Gly430=) | |
| 19 | g.18786065G>C | CA506117463 | COMP | c.1389C>G (p.Gly463=) c.1230C>G (p.Gly410=) c.1290C>G (p.Gly430=) | |
| 19 | g.18786065G>T | CA506117464 | COMP | c.1389C>A (p.Gly463=) c.1230C>A (p.Gly410=) c.1290C>A (p.Gly430=) | |
| 19 | g.18786066C>A | CA306255348 | COMP | c.1388G>T (p.Gly463Val) c.1229G>T (p.Gly410Val) c.1289G>T (p.Gly430Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18786066C= | CA2326525549 | COMP | c.1388G= (p.Gly463=) c.1229G= (p.Gly410=) c.1289G= (p.Gly430=) |