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 |
|---|---|---|---|---|---|
| 1 | g.21576538G>A | CA416534004 | ALPL | c.1206G>A (p.Leu402=) n.475G>A c.281G>A c.975G>A (p.Leu325=) c.1041G>A (p.Leu347=) c.1050G>A (p.Leu350=) | gnomAD v4 |
| 1 | g.21576538G>C | CA416534006 | ALPL | c.1206G>C (p.Leu402=) n.475G>C c.281G>C c.975G>C (p.Leu325=) c.1041G>C (p.Leu347=) c.1050G>C (p.Leu350=) | |
| 1 | g.21576538G>T | CA416534005 | ALPL | c.1206G>T (p.Leu402=) n.475G>T c.281G>T c.975G>T (p.Leu325=) c.1041G>T (p.Leu347=) c.1050G>T (p.Leu350=) | |
| 1 | g.21576539A= | CA1158019771 | ALPL | c.1207A= (p.Ser403=) n.476A= c.282A= c.976A= (p.Ser326=) c.1042A= (p.Ser348=) c.1051A= (p.Ser351=) | |
| 1 | g.21576539A>C | CA338881678 | ALPL | c.1207A>C (p.Ser403Arg) n.476A>C c.282A>C c.976A>C (p.Ser326Arg) c.1042A>C (p.Ser348Arg) c.1051A>C (p.Ser351Arg) | |
| 1 | g.21576539A>G | CA338881676 | ALPL | c.1207A>G (p.Ser403Gly) n.476A>G c.282A>G c.976A>G (p.Ser326Gly) c.1042A>G (p.Ser348Gly) c.1051A>G (p.Ser351Gly) | |
| 1 | g.21576539A>T | CA338881677 | ALPL | c.1207A>T (p.Ser403Cys) n.476A>T c.282A>T c.976A>T (p.Ser326Cys) c.1042A>T (p.Ser348Cys) c.1051A>T (p.Ser351Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21576540G>A | CA666784 | ALPL | c.1208G>A (p.Ser403Asn) n.477G>A c.283G>A c.977G>A (p.Ser326Asn) c.1043G>A (p.Ser348Asn) c.1052G>A (p.Ser351Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21576540G>C | CA666785 | ALPL | c.1208G>C (p.Ser403Thr) n.477G>C c.283G>C c.977G>C (p.Ser326Thr) c.1043G>C (p.Ser348Thr) c.1052G>C (p.Ser351Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21576540G= | CA1158019772 | ALPL | c.1208G= (p.Ser403=) n.477G= c.283G= c.977G= (p.Ser326=) c.1043G= (p.Ser348=) c.1052G= (p.Ser351=) | |
| 1 | g.21576540G>T | CA338881682 | ALPL | c.1208G>T (p.Ser403Ile) n.477G>T c.283G>T c.977G>T (p.Ser326Ile) c.1043G>T (p.Ser348Ile) c.1052G>T (p.Ser351Ile) | |
| 1 | g.21576541T>A | CA338881683 | ALPL | c.1209T>A (p.Ser403Arg) n.478T>A c.284T>A c.978T>A (p.Ser326Arg) c.1044T>A (p.Ser348Arg) c.1053T>A (p.Ser351Arg) | |
| 1 | g.21576541T>C | CA416534007 | ALPL | c.1209T>C (p.Ser403=) n.478T>C c.284T>C c.978T>C (p.Ser326=) c.1044T>C (p.Ser348=) c.1053T>C (p.Ser351=) | |
| 1 | g.21576541T>G | CA338881684 | ALPL | c.1209T>G (p.Ser403Arg) n.478T>G c.284T>G c.978T>G (p.Ser326Arg) c.1044T>G (p.Ser348Arg) c.1053T>G (p.Ser351Arg) | |
| 1 | g.21576542G>A | CA338881686 | ALPL | c.1210G>A (p.Asp404Asn) n.479G>A c.285G>A c.979G>A (p.Asp327Asn) c.1045G>A (p.Asp349Asn) c.1054G>A (p.Asp352Asn) | |
| 1 | g.21576542G>C | CA338881687 | ALPL | c.1210G>C (p.Asp404His) n.479G>C c.285G>C c.979G>C (p.Asp327His) c.1045G>C (p.Asp349His) c.1054G>C (p.Asp352His) | |
| 1 | g.21576542G>T | CA338881688 | ALPL | c.1210G>T (p.Asp404Tyr) n.479G>T c.285G>T c.979G>T (p.Asp327Tyr) c.1045G>T (p.Asp349Tyr) c.1054G>T (p.Asp352Tyr) | |
| 1 | g.21576543A>C | CA338881690 | ALPL | c.1211A>C (p.Asp404Ala) n.480A>C c.286A>C c.980A>C (p.Asp327Ala) c.1046A>C (p.Asp349Ala) c.1055A>C (p.Asp352Ala) | |
| 1 | g.21576543A>G | CA338881691 | ALPL | c.1211A>G (p.Asp404Gly) n.480A>G c.286A>G c.980A>G (p.Asp327Gly) c.1046A>G (p.Asp349Gly) c.1055A>G (p.Asp352Gly) | |
| 1 | g.21576543A>T | CA338881693 | ALPL | c.1211A>T (p.Asp404Val) n.480A>T c.286A>T c.980A>T (p.Asp327Val) c.1046A>T (p.Asp349Val) c.1055A>T (p.Asp352Val) | |
| 1 | g.21576546_21576547del | CA1139655368 | ALPL | c.1214_1215del (p.Thr405ArgfsTer22) n.483_484del c.289_290del c.983_984del (p.Thr328ArgfsTer22) c.1049_1050del (p.Thr350ArgfsTer22) c.1058_1059del (p.Thr353ArgfsTer22) | ClinVar |
| 1 | g.21576544C>A | CA338881696 | ALPL | c.1212C>A (p.Asp404Glu) n.481C>A c.287C>A c.981C>A (p.Asp327Glu) c.1047C>A (p.Asp349Glu) c.1056C>A (p.Asp352Glu) | |
| 1 | g.21576544C>G | CA338881694 | ALPL | c.1212C>G (p.Asp404Glu) n.481C>G c.287C>G c.981C>G (p.Asp327Glu) c.1047C>G (p.Asp349Glu) c.1056C>G (p.Asp352Glu) | |
| 1 | g.21576544C>T | CA416534008 | ALPL | c.1212C>T (p.Asp404=) n.481C>T c.287C>T c.981C>T (p.Asp327=) c.1047C>T (p.Asp349=) c.1056C>T (p.Asp352=) | ClinVar dbSNP |
| 1 | g.21576544_21576548del | CA913072858 | ALPL | c.1212_1216del (p.Asp404GlufsTer22) n.481_485del c.287_291del c.981_985del (p.Asp327GlufsTer22) c.1047_1051del (p.Asp349GlufsTer22) c.1056_1060del (p.Asp352GlufsTer22) | |
| 1 | g.21576544_21576548delinsCACAG | CA1158019773 | ALPL | c.1212_1216delinsCACAG (p.Asp404=) n.481_485delinsCACAG c.287_291delinsCACAG c.981_985delinsCACAG (p.Asp327=) c.1047_1051delinsCACAG (p.Asp349=) c.1056_1060delinsCACAG (p.Asp352=) | |
| 1 | g.21576545A>C | CA338881698 | ALPL | c.1213A>C (p.Thr405Pro) n.482A>C c.288A>C c.982A>C (p.Thr328Pro) c.1048A>C (p.Thr350Pro) c.1057A>C (p.Thr353Pro) | |
| 1 | g.21576545A>G | CA338881699 | ALPL | c.1213A>G (p.Thr405Ala) n.482A>G c.288A>G c.982A>G (p.Thr328Ala) c.1048A>G (p.Thr350Ala) c.1057A>G (p.Thr353Ala) | gnomAD v4 |
| 1 | g.21576545A>T | CA338881700 | ALPL | c.1213A>T (p.Thr405Ser) n.482A>T c.288A>T c.982A>T (p.Thr328Ser) c.1048A>T (p.Thr350Ser) c.1057A>T (p.Thr353Ser) | |
| 1 | g.21576548_21576551del | CA658820993 | ALPL | c.1216_1219del (p.Asp406ArgfsTer?) n.485_488del c.291_294del c.985_988del (p.Asp329ArgfsTer?) c.1051_1054del (p.Asp351ArgfsTer?) c.1060_1063del (p.Asp354ArgfsTer?) | ClinVar dbSNP |
| 1 | g.21576546C>A | CA338881701 | ALPL | c.1214C>A (p.Thr405Lys) n.483C>A c.289C>A c.983C>A (p.Thr328Lys) c.1049C>A (p.Thr350Lys) c.1058C>A (p.Thr353Lys) | |
| 1 | g.21576546C>G | CA338881702 | ALPL | c.1214C>G (p.Thr405Arg) n.483C>G c.289C>G c.983C>G (p.Thr328Arg) c.1049C>G (p.Thr350Arg) c.1058C>G (p.Thr353Arg) | ClinVar gnomAD v4 |
| 1 | g.21576546C>T | CA338881703 | ALPL | c.1214C>T (p.Thr405Ile) n.483C>T c.289C>T c.983C>T (p.Thr328Ile) c.1049C>T (p.Thr350Ile) c.1058C>T (p.Thr353Ile) | |
| 1 | g.21576547A>C | CA416534011 | ALPL | c.1215A>C (p.Thr405=) n.484A>C c.290A>C c.984A>C (p.Thr328=) c.1050A>C (p.Thr350=) c.1059A>C (p.Thr353=) | |
| 1 | g.21576547A>G | CA416534009 | ALPL | c.1215A>G (p.Thr405=) n.484A>G c.290A>G c.984A>G (p.Thr328=) c.1050A>G (p.Thr350=) c.1059A>G (p.Thr353=) | |
| 1 | g.21576547A>T | CA416534010 | ALPL | c.1215A>T (p.Thr405=) n.484A>T c.290A>T c.984A>T (p.Thr328=) c.1050A>T (p.Thr350=) c.1059A>T (p.Thr353=) | |
| 1 | g.21576548G>A | CA338881704 | ALPL | c.1216G>A (p.Asp406Asn) n.485G>A c.291G>A c.985G>A (p.Asp329Asn) c.1051G>A (p.Asp351Asn) c.1060G>A (p.Asp354Asn) | COSMIC |
| 1 | g.21576548G>C | CA338881705 | ALPL | c.1216G>C (p.Asp406His) n.485G>C c.291G>C c.985G>C (p.Asp329His) c.1051G>C (p.Asp351His) c.1060G>C (p.Asp354His) | |
| 1 | g.21576548G>T | CA338881706 | ALPL | c.1216G>T (p.Asp406Tyr) n.485G>T c.291G>T c.985G>T (p.Asp329Tyr) c.1051G>T (p.Asp351Tyr) c.1060G>T (p.Asp354Tyr) | gnomAD v4 |
| 1 | g.21576549A>C | CA338881707 | ALPL | c.1217A>C (p.Asp406Ala) n.486A>C c.292A>C c.986A>C (p.Asp329Ala) c.1052A>C (p.Asp351Ala) c.1061A>C (p.Asp354Ala) | |
| 1 | g.21576549A>G | CA338881708 | ALPL | c.1217A>G (p.Asp406Gly) n.486A>G c.292A>G c.986A>G (p.Asp329Gly) c.1052A>G (p.Asp351Gly) c.1061A>G (p.Asp354Gly) | ClinVar |
| 1 | g.21576549A>T | CA338881709 | ALPL | c.1217A>T (p.Asp406Val) n.486A>T c.292A>T c.986A>T (p.Asp329Val) c.1052A>T (p.Asp351Val) c.1061A>T (p.Asp354Val) | |
| 1 | g.21576550C>A | CA338881710 | ALPL | c.1218C>A (p.Asp406Glu) n.487C>A c.293C>A c.987C>A (p.Asp329Glu) c.1053C>A (p.Asp351Glu) c.1062C>A (p.Asp354Glu) | |
| 1 | g.21576550C>G | CA338881711 | ALPL | c.1218C>G (p.Asp406Glu) n.487C>G c.293C>G c.987C>G (p.Asp329Glu) c.1053C>G (p.Asp351Glu) c.1062C>G (p.Asp354Glu) | |
| 1 | g.21576550C>T | CA416534012 | ALPL | c.1218C>T (p.Asp406=) n.487C>T c.293C>T c.987C>T (p.Asp329=) c.1053C>T (p.Asp351=) c.1062C>T (p.Asp354=) | |
| 1 | g.21576551A= | CA1158019774 | ALPL | c.1219A= (p.Lys407=) n.488A= c.294A= c.988A= (p.Lys330=) c.1054A= (p.Lys352=) c.1063A= (p.Lys355=) | |
| 1 | g.21576551A>C | CA338881713 | ALPL | c.1219A>C (p.Lys407Gln) n.488A>C c.294A>C c.988A>C (p.Lys330Gln) c.1054A>C (p.Lys352Gln) c.1063A>C (p.Lys355Gln) | gnomAD v4 |
| 1 | g.21576551A>G | CA338881714 | ALPL | c.1219A>G (p.Lys407Glu) n.488A>G c.294A>G c.988A>G (p.Lys330Glu) c.1054A>G (p.Lys352Glu) c.1063A>G (p.Lys355Glu) | dbSNP gnomAD v4 |
| 1 | g.21576551A>T | CA338881712 | ALPL | c.1219A>T (p.Lys407Ter) n.488A>T c.294A>T c.988A>T (p.Lys330Ter) c.1054A>T (p.Lys352Ter) c.1063A>T (p.Lys355Ter) | |
| 1 | g.21576554_21576556del | CA2643931890 | ALPL | c.1222_1224del (p.Lys408del) n.491_493del c.297_299del c.991_993del (p.Lys331del) c.1057_1059del (p.Lys353del) c.1066_1068del (p.Lys356del) | gnomAD v4 |