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 |
|---|---|---|---|---|---|
| 4 | g.73418217A= | CA1468146912 | ALB | c.1558A= (p.Thr520=) c.1213A= (p.Thr405=) c.982A= (p.Thr328=) c.*837A= (n.*837A=) n.212A= c.1108A= (p.Thr370=) n.1105A= c.1091A= c.919A= (p.Thr307=) | |
| 4 | g.73418217A>C | CA357244768 | ALB | c.1558A>C (p.Thr520Pro) c.1213A>C (p.Thr405Pro) c.982A>C (p.Thr328Pro) c.*837A>C (n.*837A>C) n.212A>C c.1108A>C (p.Thr370Pro) n.1105A>C c.1091A>C c.919A>C (p.Thr307Pro) | |
| 4 | g.73418217A>G | CA2959686 | ALB | c.1558A>G (p.Thr520Ala) c.1213A>G (p.Thr405Ala) c.982A>G (p.Thr328Ala) c.*837A>G (n.*837A>G) n.212A>G c.1108A>G (p.Thr370Ala) n.1105A>G c.1091A>G c.919A>G (p.Thr307Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73418217A>T | CA357244770 | ALB | c.1558A>T (p.Thr520Ser) c.1213A>T (p.Thr405Ser) c.982A>T (p.Thr328Ser) c.*837A>T (n.*837A>T) n.212A>T c.1108A>T (p.Thr370Ser) n.1105A>T c.1091A>T c.919A>T (p.Thr307Ser) | dbSNP |
| 4 | g.73418218C>A | CA357244776 | ALB | c.1559C>A (p.Thr520Lys) c.1214C>A (p.Thr405Lys) c.983C>A (p.Thr328Lys) c.*838C>A (n.*838C>A) n.213C>A c.1109C>A (p.Thr370Lys) n.1106C>A c.1092C>A c.920C>A (p.Thr307Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.73418218C= | CA1468146914 | ALB | c.1559C= (p.Thr520=) c.1214C= (p.Thr405=) c.983C= (p.Thr328=) c.*838C= (n.*838C=) n.213C= c.1109C= (p.Thr370=) n.1106C= c.1092C= c.920C= (p.Thr307=) | |
| 4 | g.73418218C>G | CA357244779 | ALB | c.1559C>G (p.Thr520Arg) c.1214C>G (p.Thr405Arg) c.983C>G (p.Thr328Arg) c.*838C>G (n.*838C>G) n.213C>G c.1109C>G (p.Thr370Arg) n.1106C>G c.1092C>G c.920C>G (p.Thr307Arg) | dbSNP |
| 4 | g.73418218C>T | CA357244781 | ALB | c.1559C>T (p.Thr520Ile) c.1214C>T (p.Thr405Ile) c.983C>T (p.Thr328Ile) c.*838C>T (n.*838C>T) n.213C>T c.1109C>T (p.Thr370Ile) n.1106C>T c.1092C>T c.920C>T (p.Thr307Ile) | dbSNP |
| 4 | g.73418219A>C | CA439948392 | ALB | c.1560A>C (p.Thr520=) c.1215A>C (p.Thr405=) c.984A>C (p.Thr328=) c.*839A>C (n.*839A>C) n.214A>C c.1110A>C (p.Thr370=) n.1107A>C c.1093A>C c.921A>C (p.Thr307=) | |
| 4 | g.73418219A>G | CA439948393 | ALB | c.1560A>G (p.Thr520=) c.1215A>G (p.Thr405=) c.984A>G (p.Thr328=) c.*839A>G (n.*839A>G) n.214A>G c.1110A>G (p.Thr370=) n.1107A>G c.1093A>G c.921A>G (p.Thr307=) | ClinVar gnomAD v4 |
| 4 | g.73418219A>T | CA439948394 | ALB | c.1560A>T (p.Thr520=) c.1215A>T (p.Thr405=) c.984A>T (p.Thr328=) c.*839A>T (n.*839A>T) n.214A>T c.1110A>T (p.Thr370=) n.1107A>T c.1093A>T c.921A>T (p.Thr307=) | dbSNP |
| 4 | g.73418220T>A | CA357244783 | ALB | c.1561T>A (p.Tyr521Asn) c.1216T>A (p.Tyr406Asn) c.985T>A (p.Tyr329Asn) c.*840T>A (n.*840T>A) n.215T>A c.1111T>A (p.Tyr371Asn) n.1108T>A c.1094T>A c.922T>A (p.Tyr308Asn) | |
| 4 | g.73418220T>C | CA357244785 | ALB | c.1561T>C (p.Tyr521His) c.1216T>C (p.Tyr406His) c.985T>C (p.Tyr329His) c.*840T>C (n.*840T>C) n.215T>C c.1111T>C (p.Tyr371His) n.1108T>C c.1094T>C c.922T>C (p.Tyr308His) | gnomAD v4 |
| 4 | g.73418220T>G | CA357244788 | ALB | c.1561T>G (p.Tyr521Asp) c.1216T>G (p.Tyr406Asp) c.985T>G (p.Tyr329Asp) c.*840T>G (n.*840T>G) n.215T>G c.1111T>G (p.Tyr371Asp) n.1108T>G c.1094T>G c.922T>G (p.Tyr308Asp) | |
| 4 | g.73418221A>C | CA357244793 | ALB | c.1562A>C (p.Tyr521Ser) c.1217A>C (p.Tyr406Ser) c.986A>C (p.Tyr329Ser) c.*841A>C (n.*841A>C) n.216A>C c.1112A>C (p.Tyr371Ser) n.1109A>C c.1095A>C c.923A>C (p.Tyr308Ser) | |
| 4 | g.73418221A>G | CA357244796 | ALB | c.1562A>G (p.Tyr521Cys) c.1217A>G (p.Tyr406Cys) c.986A>G (p.Tyr329Cys) c.*841A>G (n.*841A>G) n.216A>G c.1112A>G (p.Tyr371Cys) n.1109A>G c.1095A>G c.923A>G (p.Tyr308Cys) | |
| 4 | g.73418221A>T | CA357244790 | ALB | c.1562A>T (p.Tyr521Phe) c.1217A>T (p.Tyr406Phe) c.986A>T (p.Tyr329Phe) c.*841A>T (n.*841A>T) n.216A>T c.1112A>T (p.Tyr371Phe) n.1109A>T c.1095A>T c.923A>T (p.Tyr308Phe) | dbSNP |
| 4 | g.73418222_73418230del | CA2706482528 | ALB | c.1563_1571del (p.Tyr521Ter) c.1218_1226del (p.Tyr406Ter) c.987_995del (p.Tyr329Ter) c.*842_*850del (n.*842_*850del) n.217_225del c.1113_1121del (p.Tyr371Ter) n.1110_1118del c.1096_1104del c.924_932del (p.Tyr308Ter) | dbSNP |
| 4 | g.73418222C>A | CA357244800 | ALB | c.1563C>A (p.Tyr521Ter) c.1218C>A (p.Tyr406Ter) c.987C>A (p.Tyr329Ter) c.*842C>A (n.*842C>A) n.217C>A c.1113C>A (p.Tyr371Ter) n.1110C>A c.1096C>A c.924C>A (p.Tyr308Ter) | |
| 4 | g.73418222C= | CA1468146917 | ALB | c.1563C= (p.Tyr521=) c.1218C= (p.Tyr406=) c.987C= (p.Tyr329=) c.*842C= (n.*842C=) n.217C= c.1113C= (p.Tyr371=) n.1110C= c.1096C= c.924C= (p.Tyr308=) | |
| 4 | g.73418222C>G | CA357244803 | ALB | c.1563C>G (p.Tyr521Ter) c.1218C>G (p.Tyr406Ter) c.987C>G (p.Tyr329Ter) c.*842C>G (n.*842C>G) n.217C>G c.1113C>G (p.Tyr371Ter) n.1110C>G c.1096C>G c.924C>G (p.Tyr308Ter) | dbSNP |
| 4 | g.73418222C>T | CA2959687 | ALB | c.1563C>T (p.Tyr521=) c.1218C>T (p.Tyr406=) c.987C>T (p.Tyr329=) c.*842C>T (n.*842C>T) n.217C>T c.1113C>T (p.Tyr371=) n.1110C>T c.1096C>T c.924C>T (p.Tyr308=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73418223G>A | CA2959688 | ALB | c.1564G>A (p.Val522Ile) c.1219G>A (p.Val407Ile) c.988G>A (p.Val330Ile) c.*843G>A (n.*843G>A) n.218G>A c.1114G>A (p.Val372Ile) n.1111G>A c.1097G>A c.925G>A (p.Val309Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.73418223G>C | CA357244821 | ALB | c.1564G>C (p.Val522Leu) c.1219G>C (p.Val407Leu) c.988G>C (p.Val330Leu) c.*843G>C (n.*843G>C) n.218G>C c.1114G>C (p.Val372Leu) n.1111G>C c.1097G>C c.925G>C (p.Val309Leu) | dbSNP |
| 4 | g.73418223G= | CA1468146918 | ALB | c.1564G= (p.Val522=) c.1219G= (p.Val407=) c.988G= (p.Val330=) c.*843G= (n.*843G=) n.218G= c.1114G= (p.Val372=) n.1111G= c.1097G= c.925G= (p.Val309=) | |
| 4 | g.73418223G>T | CA357244825 | ALB | c.1564G>T (p.Val522Phe) c.1219G>T (p.Val407Phe) c.988G>T (p.Val330Phe) c.*843G>T (n.*843G>T) n.218G>T c.1114G>T (p.Val372Phe) n.1111G>T c.1097G>T c.925G>T (p.Val309Phe) | |
| 4 | g.73418224T>A | CA357244828 | ALB | c.1565T>A (p.Val522Asp) c.1220T>A (p.Val407Asp) c.989T>A (p.Val330Asp) c.*844T>A (n.*844T>A) n.219T>A c.1115T>A (p.Val372Asp) n.1112T>A c.1098T>A c.926T>A (p.Val309Asp) | dbSNP |
| 4 | g.73418224T>C | CA357244831 | ALB | c.1565T>C (p.Val522Ala) c.1220T>C (p.Val407Ala) c.989T>C (p.Val330Ala) c.*844T>C (n.*844T>C) n.219T>C c.1115T>C (p.Val372Ala) n.1112T>C c.1098T>C c.926T>C (p.Val309Ala) | |
| 4 | g.73418224T>G | CA357244834 | ALB | c.1565T>G (p.Val522Gly) c.1220T>G (p.Val407Gly) c.989T>G (p.Val330Gly) c.*844T>G (n.*844T>G) n.219T>G c.1115T>G (p.Val372Gly) n.1112T>G c.1098T>G c.926T>G (p.Val309Gly) | |
| 4 | g.73418225T>A | CA439948395 | ALB | c.1566T>A (p.Val522=) c.1221T>A (p.Val407=) c.990T>A (p.Val330=) c.*845T>A (n.*845T>A) n.220T>A c.1116T>A (p.Val372=) n.1113T>A c.1099T>A c.927T>A (p.Val309=) | |
| 4 | g.73418225T>C | CA439948396 | ALB | c.1566T>C (p.Val522=) c.1221T>C (p.Val407=) c.990T>C (p.Val330=) c.*845T>C (n.*845T>C) n.220T>C c.1116T>C (p.Val372=) n.1113T>C c.1099T>C c.927T>C (p.Val309=) | dbSNP |
| 4 | g.73418225T>G | CA439948397 | ALB | c.1566T>G (p.Val522=) c.1221T>G (p.Val407=) c.990T>G (p.Val330=) c.*845T>G (n.*845T>G) n.220T>G c.1116T>G (p.Val372=) n.1113T>G c.1099T>G c.927T>G (p.Val309=) | |
| 4 | g.73418225T= | CA1468146920 | ALB | c.1566T= (p.Val522=) c.1221T= (p.Val407=) c.990T= (p.Val330=) c.*845T= (n.*845T=) n.220T= c.1116T= (p.Val372=) n.1113T= c.1099T= c.927T= (p.Val309=) | |
| 4 | g.73418226C>A | CA357244838 | ALB | c.1567C>A (p.Pro523Thr) c.1222C>A (p.Pro408Thr) c.991C>A (p.Pro331Thr) c.*846C>A (n.*846C>A) n.221C>A c.1117C>A (p.Pro373Thr) n.1114C>A c.1100C>A c.928C>A (p.Pro310Thr) | |
| 4 | g.73418226C>G | CA357244841 | ALB | c.1567C>G (p.Pro523Ala) c.1222C>G (p.Pro408Ala) c.991C>G (p.Pro331Ala) c.*846C>G (n.*846C>G) n.221C>G c.1117C>G (p.Pro373Ala) n.1114C>G c.1100C>G c.928C>G (p.Pro310Ala) | |
| 4 | g.73418226C>T | CA357244849 | ALB | c.1567C>T (p.Pro523Ser) c.1222C>T (p.Pro408Ser) c.991C>T (p.Pro331Ser) c.*846C>T (n.*846C>T) n.221C>T c.1117C>T (p.Pro373Ser) n.1114C>T c.1100C>T c.928C>T (p.Pro310Ser) | COSMIC |
| 4 | g.73418228del | CA2706482539 | ALB | c.1569del (p.Glu525SerfsTer?) c.1224del (p.Glu410SerfsTer?) c.993del (p.Glu333SerfsTer?) c.*848del (n.*848del) n.223del c.1119del (p.Glu375SerfsTer?) n.1116del c.1102del c.930del (p.Glu312SerfsTer?) | dbSNP |
| 4 | g.73418227C>A | CA357244856 | ALB | c.1568C>A (p.Pro523His) c.1223C>A (p.Pro408His) c.992C>A (p.Pro331His) c.*847C>A (n.*847C>A) n.222C>A c.1118C>A (p.Pro373His) n.1115C>A c.1101C>A c.929C>A (p.Pro310His) | dbSNP |
| 4 | g.73418227C>G | CA357244859 | ALB | c.1568C>G (p.Pro523Arg) c.1223C>G (p.Pro408Arg) c.992C>G (p.Pro331Arg) c.*847C>G (n.*847C>G) n.222C>G c.1118C>G (p.Pro373Arg) n.1115C>G c.1101C>G c.929C>G (p.Pro310Arg) | dbSNP |
| 4 | g.73418227C>T | CA357244853 | ALB | c.1568C>T (p.Pro523Leu) c.1223C>T (p.Pro408Leu) c.992C>T (p.Pro331Leu) c.*847C>T (n.*847C>T) n.222C>T c.1118C>T (p.Pro373Leu) n.1115C>T c.1101C>T c.929C>T (p.Pro310Leu) | dbSNP gnomAD v4 |
| 4 | g.73418228C>A | CA439948398 | ALB | c.1569C>A (p.Pro523=) c.1224C>A (p.Pro408=) c.993C>A (p.Pro331=) c.*848C>A (n.*848C>A) n.223C>A c.1119C>A (p.Pro373=) n.1116C>A c.1102C>A c.930C>A (p.Pro310=) | |
| 4 | g.73418228C>G | CA439948399 | ALB | c.1569C>G (p.Pro523=) c.1224C>G (p.Pro408=) c.993C>G (p.Pro331=) c.*848C>G (n.*848C>G) n.223C>G c.1119C>G (p.Pro373=) n.1116C>G c.1102C>G c.930C>G (p.Pro310=) | dbSNP |
| 4 | g.73418228C>T | CA439948400 | ALB | c.1569C>T (p.Pro523=) c.1224C>T (p.Pro408=) c.993C>T (p.Pro331=) c.*848C>T (n.*848C>T) n.223C>T c.1119C>T (p.Pro373=) n.1116C>T c.1102C>T c.930C>T (p.Pro310=) | dbSNP |
| 4 | g.73418229A= | CA1468146922 | ALB | c.1570A= (p.Lys524=) c.1225A= (p.Lys409=) c.994A= (p.Lys332=) c.*849A= (n.*849A=) n.224A= c.1120A= (p.Lys374=) n.1117A= c.1103A= c.931A= (p.Lys311=) | |
| 4 | g.73418229A>C | CA357244863 | ALB | c.1570A>C (p.Lys524Gln) c.1225A>C (p.Lys409Gln) c.994A>C (p.Lys332Gln) c.*849A>C (n.*849A>C) n.224A>C c.1120A>C (p.Lys374Gln) n.1117A>C c.1103A>C c.931A>C (p.Lys311Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73418229A>G | CA357244864 | ALB | c.1570A>G (p.Lys524Glu) c.1225A>G (p.Lys409Glu) c.994A>G (p.Lys332Glu) c.*849A>G (n.*849A>G) n.224A>G c.1120A>G (p.Lys374Glu) n.1117A>G c.1103A>G c.931A>G (p.Lys311Glu) | |
| 4 | g.73418229A>T | CA357244866 | ALB | c.1570A>T (p.Lys524Ter) c.1225A>T (p.Lys409Ter) c.994A>T (p.Lys332Ter) c.*849A>T (n.*849A>T) n.224A>T c.1120A>T (p.Lys374Ter) n.1117A>T c.1103A>T c.931A>T (p.Lys311Ter) | dbSNP |
| 4 | g.73418231del | CA2580071797 | ALB | c.1572del (p.Glu525SerfsTer?) c.1227del (p.Glu410SerfsTer?) c.996del (p.Glu333SerfsTer?) c.*851del (n.*851del) n.226del c.1122del (p.Glu375SerfsTer?) n.1119del c.1105del c.933del (p.Glu312SerfsTer?) | |
| 4 | g.73418230A>C | CA357244868 | ALB | c.1571A>C (p.Lys524Thr) c.1226A>C (p.Lys409Thr) c.995A>C (p.Lys332Thr) c.*850A>C (n.*850A>C) n.225A>C c.1121A>C (p.Lys374Thr) n.1118A>C c.1104A>C c.932A>C (p.Lys311Thr) | |
| 4 | g.73418230A>G | CA357244871 | ALB | c.1571A>G (p.Lys524Arg) c.1226A>G (p.Lys409Arg) c.995A>G (p.Lys332Arg) c.*850A>G (n.*850A>G) n.225A>G c.1121A>G (p.Lys374Arg) n.1118A>G c.1104A>G c.932A>G (p.Lys311Arg) |