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 |
|---|---|---|---|---|---|
| 1 | g.229431562C>A | CA345144475 | ACTA1 | c.993G>T (p.Met331Ile) c.936G>T (p.Met312Ile) c.702G>T (p.Met234Ile) c.1071G>T (p.Met357Ile) | |
| 1 | g.229431562C= | CA1148239652 | ACTA1 | c.993G= (p.Met331=) c.936G= (p.Met312=) c.702G= (p.Met234=) c.1071G= (p.Met357=) | |
| 1 | g.229431562C>G | CA345144479 | ACTA1 | c.993G>C (p.Met331Ile) c.936G>C (p.Met312Ile) c.702G>C (p.Met234Ile) c.1071G>C (p.Met357Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229431562C>T | CA1442710 | ACTA1 | c.993G>A (p.Met331Ile) c.936G>A (p.Met312Ile) c.702G>A (p.Met234Ile) c.1071G>A (p.Met357Ile) | dbSNP ExAC gnomAD v2 |
| 1 | g.229431563A= | CA1147059542 | ACTA1 | c.992T= (p.Met331=) c.935T= (p.Met312=) c.701T= (p.Met234=) c.1070T= (p.Met357=) | |
| 1 | g.229431563A>C | CA345144484 | ACTA1 | c.992T>G (p.Met331Arg) c.935T>G (p.Met312Arg) c.701T>G (p.Met234Arg) c.1070T>G (p.Met357Arg) | |
| 1 | g.229431563A>G | CA1442711 | ACTA1 | c.992T>C (p.Met331Thr) c.935T>C (p.Met312Thr) c.701T>C (p.Met234Thr) c.1070T>C (p.Met357Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 |
| 1 | g.229431563A>T | CA345144492 | ACTA1 | c.992T>A (p.Met331Lys) c.935T>A (p.Met312Lys) c.701T>A (p.Met234Lys) c.1070T>A (p.Met357Lys) | |
| 1 | g.229431564T>A | CA345144496 | ACTA1 | c.991A>T (p.Met331Leu) c.934A>T (p.Met312Leu) c.700A>T (p.Met234Leu) c.1069A>T (p.Met357Leu) | |
| 1 | g.229431564T>C | CA345144500 | ACTA1 | c.991A>G (p.Met331Val) c.934A>G (p.Met312Val) c.700A>G (p.Met234Val) c.1069A>G (p.Met357Val) | ClinVar dbSNP |
| 1 | g.229431564T>G | CA345144502 | ACTA1 | c.991A>C (p.Met331Leu) c.934A>C (p.Met312Leu) c.700A>C (p.Met234Leu) c.1069A>C (p.Met357Leu) | |
| 1 | g.229431564T= | CA1226125380 | ACTA1 | c.991A= (p.Met331=) c.934A= (p.Met312=) c.700A= (p.Met234=) c.1069A= (p.Met357=) | |
| 1 | g.229431565C>A | CA345144509 | ACTA1 | c.991-1G>T (n.991-1G>T) c.933G>T (p.Gln311His) c.699G>T (p.Gln233His) c.1068G>T (p.Gln356His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431565C= | CA1226125381 | ACTA1 | c.991-1G= (n.991-1G=) c.933G= (p.Gln311=) c.699G= (p.Gln233=) c.1068G= (p.Gln356=) | |
| 1 | g.229431565C>G | CA345144505 | ACTA1 | c.991-1G>C (n.991-1G>C) c.933G>C (p.Gln311His) c.699G>C (p.Gln233His) c.1068G>C (p.Gln356His) | |
| 1 | g.229431565C>T | CA423754805 | ACTA1 | c.991-1G>A (n.991-1G>A) c.933G>A (p.Gln311=) c.699G>A (p.Gln233=) c.1068G>A (p.Gln356=) | |
| 1 | g.229431566T>A | CA345144513 | ACTA1 | c.991-2A>T (n.991-2A>T) c.932A>T (p.Gln311Leu) c.698A>T (p.Gln233Leu) c.1067A>T (p.Gln356Leu) | |
| 1 | g.229431566T>C | CA345144516 | ACTA1 | c.991-2A>G (n.991-2A>G) c.932A>G (p.Gln311Arg) c.698A>G (p.Gln233Arg) c.1067A>G (p.Gln356Arg) | dbSNP |
| 1 | g.229431566T>G | CA345144518 | ACTA1 | c.991-2A>C (n.991-2A>C) c.932A>C (p.Gln311Pro) c.698A>C (p.Gln233Pro) c.1067A>C (p.Gln356Pro) | |
| 1 | g.229431566T= | CA1226125382 | ACTA1 | c.991-2A= (n.991-2A=) c.932A= (p.Gln311=) c.698A= (p.Gln233=) c.1067A= (p.Gln356=) | |
| 1 | g.229431567G>A | CA345144523 | ACTA1 | c.991-3C>T (n.991-3C>T) c.931C>T (p.Gln311Ter) c.697C>T (p.Gln233Ter) c.1066C>T (p.Gln356Ter) | |
| 1 | g.229431567G>C | CA345144526 | ACTA1 | c.991-3C>G (n.991-3C>G) c.931C>G (p.Gln311Glu) c.697C>G (p.Gln233Glu) c.1066C>G (p.Gln356Glu) | |
| 1 | g.229431567G>T | CA345144528 | ACTA1 | c.991-3C>A (n.991-3C>A) c.931C>A (p.Gln311Lys) c.697C>A (p.Gln233Lys) c.1066C>A (p.Gln356Lys) | |
| 1 | g.229431568C>A | CA345144531 | ACTA1 | c.991-4G>T (n.991-4G>T) c.930G>T (p.Gln310His) c.696G>T (p.Gln232His) c.1065G>T (p.Gln355His) | |
| 1 | g.229431568C= | CA1144093655 | ACTA1 | c.991-4G= (n.991-4G=) c.930G= (p.Gln310=) c.696G= (p.Gln232=) c.1065G= (p.Gln355=) | |
| 1 | g.229431568C>G | CA345144535 | ACTA1 | c.991-4G>C (n.991-4G>C) c.930G>C (p.Gln310His) c.696G>C (p.Gln232His) c.1065G>C (p.Gln355His) | |
| 1 | g.229431568C>T | CA1442712 | ACTA1 | c.991-4G>A (n.991-4G>A) c.930G>A (p.Gln310=) c.696G>A (p.Gln232=) c.1065G>A (p.Gln355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431569T>A | CA345144540 | ACTA1 | c.991-5A>T (n.991-5A>T) c.929A>T (p.Gln310Leu) c.695A>T (p.Gln232Leu) c.1064A>T (p.Gln355Leu) | dbSNP gnomAD v2 |
| 1 | g.229431569T>C | CA345144542 | ACTA1 | c.991-5A>G (n.991-5A>G) c.929A>G (p.Gln310Arg) c.695A>G (p.Gln232Arg) c.1064A>G (p.Gln355Arg) | |
| 1 | g.229431569T>G | CA345144545 | ACTA1 | c.991-5A>C (n.991-5A>C) c.929A>C (p.Gln310Pro) c.695A>C (p.Gln232Pro) c.1064A>C (p.Gln355Pro) | |
| 1 | g.229431569T= | CA1226125383 | ACTA1 | c.991-5A= (n.991-5A=) c.929A= (p.Gln310=) c.695A= (p.Gln232=) c.1064A= (p.Gln355=) | |
| 1 | g.229431570G>A | CA345144548 | ACTA1 | c.991-6C>T (n.991-6C>T) c.928C>T (p.Gln310Ter) c.694C>T (p.Gln232Ter) c.1063C>T (p.Gln355Ter) | |
| 1 | g.229431570G>C | CA345144547 | ACTA1 | c.991-6C>G (n.991-6C>G) c.928C>G (p.Gln310Glu) c.694C>G (p.Gln232Glu) c.1063C>G (p.Gln355Glu) | |
| 1 | g.229431570G= | CA1226125384 | ACTA1 | c.991-6C= (n.991-6C=) c.928C= (p.Gln310=) c.694C= (p.Gln232=) c.1063C= (p.Gln355=) | |
| 1 | g.229431570G>T | CA345144546 | ACTA1 | c.991-6C>A (n.991-6C>A) c.928C>A (p.Gln310Lys) c.694C>A (p.Gln232Lys) c.1063C>A (p.Gln355Lys) | dbSNP gnomAD v2 |
| 1 | g.229431571G>A | CA423754810 | ACTA1 | c.991-7C>T (n.991-7C>T) c.927C>T (p.Phe309=) c.693C>T (p.Phe231=) c.1062C>T (p.Phe354=) | |
| 1 | g.229431571G>C | CA345144551 | ACTA1 | c.991-7C>G (n.991-7C>G) c.927C>G (p.Phe309Leu) c.693C>G (p.Phe231Leu) c.1062C>G (p.Phe354Leu) | |
| 1 | g.229431571G>T | CA345144549 | ACTA1 | c.991-7C>A (n.991-7C>A) c.927C>A (p.Phe309Leu) c.693C>A (p.Phe231Leu) c.1062C>A (p.Phe354Leu) | |
| 1 | g.229431572A>C | CA345144553 | ACTA1 | c.991-8T>G (n.991-8T>G) c.926T>G (p.Phe309Cys) c.692T>G (p.Phe231Cys) c.1061T>G (p.Phe354Cys) | |
| 1 | g.229431572A>G | CA345144556 | ACTA1 | c.991-8T>C (n.991-8T>C) c.926T>C (p.Phe309Ser) c.692T>C (p.Phe231Ser) c.1061T>C (p.Phe354Ser) | ClinVar |
| 1 | g.229431572A>T | CA345144560 | ACTA1 | c.991-8T>A (n.991-8T>A) c.926T>A (p.Phe309Tyr) c.692T>A (p.Phe231Tyr) c.1061T>A (p.Phe354Tyr) | |
| 1 | g.229431573A>C | CA345144564 | ACTA1 | c.991-9T>G (n.991-9T>G) c.925T>G (p.Phe309Val) c.691T>G (p.Phe231Val) c.1060T>G (p.Phe354Val) | |
| 1 | g.229431573A>G | CA345144566 | ACTA1 | c.991-9T>C (n.991-9T>C) c.925T>C (p.Phe309Leu) c.691T>C (p.Phe231Leu) c.1060T>C (p.Phe354Leu) | ClinVar dbSNP |
| 1 | g.229431573A>T | CA345144568 | ACTA1 | c.991-9T>A (n.991-9T>A) c.925T>A (p.Phe309Ile) c.691T>A (p.Phe231Ile) c.1060T>A (p.Phe354Ile) | |
| 1 | g.229431576_229431592del | CA2573132002 | ACTA1 | c.991-25_991-9del (n.991-25_991-9del) c.909_925del (p.Ala304ProfsTer?) c.675_691del (p.Ala226ProfsTer?) c.1044_1060del (p.Ala349ProfsTer?) | ClinVar dbSNP |
| 1 | g.229431574G>A | CA423754811 | ACTA1 | c.991-10C>T (n.991-10C>T) c.924C>T (p.Thr308=) c.690C>T (p.Thr230=) c.1059C>T (p.Thr353=) | |
| 1 | g.229431574G>C | CA423754812 | ACTA1 | c.991-10C>G (n.991-10C>G) c.924C>G (p.Thr308=) c.690C>G (p.Thr230=) c.1059C>G (p.Thr353=) | |
| 1 | g.229431574G>T | CA423754813 | ACTA1 | c.991-10C>A (n.991-10C>A) c.924C>A (p.Thr308=) c.690C>A (p.Thr230=) c.1059C>A (p.Thr353=) | |
| 1 | g.229431575G>A | CA345144571 | ACTA1 | c.991-11C>T (n.991-11C>T) c.923C>T (p.Thr308Ile) c.689C>T (p.Thr230Ile) c.1058C>T (p.Thr353Ile) | |
| 1 | g.229431575G>C | CA345144575 | ACTA1 | c.991-11C>G (n.991-11C>G) c.923C>G (p.Thr308Ser) c.689C>G (p.Thr230Ser) c.1058C>G (p.Thr353Ser) |