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 |
|---|---|---|---|---|---|
| X | g.67721857G>A | CA413426471 | AR | c.*691G>A (n.*691G>A) c.2343G>A (p.Met781Ile) c.970G>A (n.970G>A) c.2174-1829G>A (n.2174-1829G>A) c.747G>A (p.Met249Ile) c.1773G>A (p.Met591Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67721857G>C | CA413426473 | AR | c.*691G>C (n.*691G>C) c.2343G>C (p.Met781Ile) c.970G>C (n.970G>C) c.2174-1829G>C (n.2174-1829G>C) c.747G>C (p.Met249Ile) c.1773G>C (p.Met591Ile) | dbSNP |
| X | g.67721857G= | CA2435134334 | AR | c.*691G= (n.*691G=) c.2343G= (p.Met781=) c.970G= (n.970G=) c.2174-1829G= (n.2174-1829G=) c.747G= (p.Met249=) c.1773G= (p.Met591=) | |
| X | g.67721857G>T | CA120769 | AR | c.*691G>T (n.*691G>T) c.2343G>T (p.Met781Ile) c.970G>T (n.970G>T) c.2174-1829G>T (n.2174-1829G>T) c.747G>T (p.Met249Ile) c.1773G>T (p.Met591Ile) | ClinVar dbSNP |
| X | g.67721858T>A | CA413426478 | AR | c.*692T>A (n.*692T>A) c.2344T>A (p.Tyr782Asn) c.971T>A (n.971T>A) c.2174-1828T>A (n.2174-1828T>A) c.748T>A (p.Tyr250Asn) c.1774T>A (p.Tyr592Asn) | dbSNP |
| X | g.67721858T>C | CA413426480 | AR | c.*692T>C (n.*692T>C) c.2344T>C (p.Tyr782His) c.971T>C (n.971T>C) c.2174-1828T>C (n.2174-1828T>C) c.748T>C (p.Tyr250His) c.1774T>C (p.Tyr592His) | |
| X | g.67721858T>G | CA413426483 | AR | c.*692T>G (n.*692T>G) c.2344T>G (p.Tyr782Asp) c.971T>G (n.971T>G) c.2174-1828T>G (n.2174-1828T>G) c.748T>G (p.Tyr250Asp) c.1774T>G (p.Tyr592Asp) | ClinVar dbSNP |
| X | g.67721859A>C | CA413426491 | AR | c.*693A>C (n.*693A>C) c.2345A>C (p.Tyr782Ser) c.972A>C (n.972A>C) c.2174-1827A>C (n.2174-1827A>C) c.749A>C (p.Tyr250Ser) c.1775A>C (p.Tyr592Ser) | dbSNP |
| X | g.67721859A>G | CA413426486 | AR | c.*693A>G (n.*693A>G) c.2345A>G (p.Tyr782Cys) c.972A>G (n.972A>G) c.2174-1827A>G (n.2174-1827A>G) c.749A>G (p.Tyr250Cys) c.1775A>G (p.Tyr592Cys) | ClinVar dbSNP |
| X | g.67721859A>T | CA413426489 | AR | c.*693A>T (n.*693A>T) c.2345A>T (p.Tyr782Phe) c.972A>T (n.972A>T) c.2174-1827A>T (n.2174-1827A>T) c.749A>T (p.Tyr250Phe) c.1775A>T (p.Tyr592Phe) | dbSNP |
| X | g.67721860C>A | CA413426494 | AR | c.*694C>A (n.*694C>A) c.2346C>A (p.Tyr782Ter) c.973C>A (n.973C>A) c.2174-1826C>A (n.2174-1826C>A) c.750C>A (p.Tyr250Ter) c.1776C>A (p.Tyr592Ter) | dbSNP |
| X | g.67721860C= | CA2435134335 | AR | c.*694C= (n.*694C=) c.2346C= (p.Tyr782=) c.973C= (n.973C=) c.2174-1826C= (n.2174-1826C=) c.750C= (p.Tyr250=) c.1776C= (p.Tyr592=) | |
| X | g.67721860C>G | CA413426497 | AR | c.*694C>G (n.*694C>G) c.2346C>G (p.Tyr782Ter) c.973C>G (n.973C>G) c.2174-1826C>G (n.2174-1826C>G) c.750C>G (p.Tyr250Ter) c.1776C>G (p.Tyr592Ter) | dbSNP |
| X | g.67721860C>T | CA10436627 | AR | c.*694C>T (n.*694C>T) c.2346C>T (p.Tyr782=) c.973C>T (n.973C>T) c.2174-1826C>T (n.2174-1826C>T) c.750C>T (p.Tyr250=) c.1776C>T (p.Tyr592=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67721861A= | CA2435134336 | AR | c.*695A= (n.*695A=) c.2347A= (p.Ser783=) c.974A= (n.974A=) c.2174-1825A= (n.2174-1825A=) c.751A= (p.Ser251=) c.1777A= (p.Ser593=) | |
| X | g.67721861A>C | CA413426501 | AR | c.*695A>C (n.*695A>C) c.2347A>C (p.Ser783Arg) c.974A>C (n.974A>C) c.2174-1825A>C (n.2174-1825A>C) c.751A>C (p.Ser251Arg) c.1777A>C (p.Ser593Arg) | |
| X | g.67721861A>G | CA10436628 | AR | c.*695A>G (n.*695A>G) c.2347A>G (p.Ser783Gly) c.974A>G (n.974A>G) c.2174-1825A>G (n.2174-1825A>G) c.751A>G (p.Ser251Gly) c.1777A>G (p.Ser593Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67721861A>T | CA413426505 | AR | c.*695A>T (n.*695A>T) c.2347A>T (p.Ser783Cys) c.974A>T (n.974A>T) c.2174-1825A>T (n.2174-1825A>T) c.751A>T (p.Ser251Cys) c.1777A>T (p.Ser593Cys) | |
| X | g.67721862G>A | CA413426509 | AR | c.*696G>A (n.*696G>A) c.2348G>A (p.Ser783Asn) c.975G>A (n.975G>A) c.2174-1824G>A (n.2174-1824G>A) c.752G>A (p.Ser251Asn) c.1778G>A (p.Ser593Asn) | COSMIC |
| X | g.67721862G>C | CA413426511 | AR | c.*696G>C (n.*696G>C) c.2348G>C (p.Ser783Thr) c.975G>C (n.975G>C) c.2174-1824G>C (n.2174-1824G>C) c.752G>C (p.Ser251Thr) c.1778G>C (p.Ser593Thr) | |
| X | g.67721862G>T | CA413426513 | AR | c.*696G>T (n.*696G>T) c.2348G>T (p.Ser783Ile) c.975G>T (n.975G>T) c.2174-1824G>T (n.2174-1824G>T) c.752G>T (p.Ser251Ile) c.1778G>T (p.Ser593Ile) | |
| X | g.67721863C>A | CA413426516 | AR | c.*697C>A (n.*697C>A) c.2349C>A (p.Ser783Arg) c.976C>A (n.976C>A) c.2174-1823C>A (n.2174-1823C>A) c.753C>A (p.Ser251Arg) c.1779C>A (p.Ser593Arg) | dbSNP |
| X | g.67721863C>G | CA413426517 | AR | c.*697C>G (n.*697C>G) c.2349C>G (p.Ser783Arg) c.976C>G (n.976C>G) c.2174-1823C>G (n.2174-1823C>G) c.753C>G (p.Ser251Arg) c.1779C>G (p.Ser593Arg) | dbSNP |
| X | g.67721863C>T | CA516970673 | AR | c.*697C>T (n.*697C>T) c.2349C>T (p.Ser783=) c.976C>T (n.976C>T) c.2174-1823C>T (n.2174-1823C>T) c.753C>T (p.Ser251=) c.1779C>T (p.Ser593=) | dbSNP |
| X | g.67721864C>A | CA413426526 | AR | c.*698C>A (n.*698C>A) c.2350C>A (p.Gln784Lys) c.977C>A (n.977C>A) c.2174-1822C>A (n.2174-1822C>A) c.754C>A (p.Gln252Lys) c.1780C>A (p.Gln594Lys) | |
| X | g.67721864C>G | CA413426523 | AR | c.*698C>G (n.*698C>G) c.2350C>G (p.Gln784Glu) c.977C>G (n.977C>G) c.2174-1822C>G (n.2174-1822C>G) c.754C>G (p.Gln252Glu) c.1780C>G (p.Gln594Glu) | dbSNP |
| X | g.67721864C>T | CA413426520 | AR | c.*698C>T (n.*698C>T) c.2350C>T (p.Gln784Ter) c.977C>T (n.977C>T) c.2174-1822C>T (n.2174-1822C>T) c.754C>T (p.Gln252Ter) c.1780C>T (p.Gln594Ter) | COSMIC |
| X | g.67721865A>C | CA413426529 | AR | c.*699A>C (n.*699A>C) c.2351A>C (p.Gln784Pro) c.978A>C (n.978A>C) c.2174-1821A>C (n.2174-1821A>C) c.755A>C (p.Gln252Pro) c.1781A>C (p.Gln594Pro) | |
| X | g.67721865A>G | CA413426532 | AR | c.*699A>G (n.*699A>G) c.2351A>G (p.Gln784Arg) c.978A>G (n.978A>G) c.2174-1821A>G (n.2174-1821A>G) c.755A>G (p.Gln252Arg) c.1781A>G (p.Gln594Arg) | |
| X | g.67721865A>T | CA413426534 | AR | c.*699A>T (n.*699A>T) c.2351A>T (p.Gln784Leu) c.978A>T (n.978A>T) c.2174-1821A>T (n.2174-1821A>T) c.755A>T (p.Gln252Leu) c.1781A>T (p.Gln594Leu) | |
| X | g.67721866G>A | CA516970680 | AR | c.*700G>A (n.*700G>A) c.2352G>A (p.Gln784=) c.979G>A (n.979G>A) c.2174-1820G>A (n.2174-1820G>A) c.756G>A (p.Gln252=) c.1782G>A (p.Gln594=) | |
| X | g.67721866G>C | CA413426537 | AR | c.*700G>C (n.*700G>C) c.2352G>C (p.Gln784His) c.979G>C (n.979G>C) c.2174-1820G>C (n.2174-1820G>C) c.756G>C (p.Gln252His) c.1782G>C (p.Gln594His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67721866G= | CA2435134337 | AR | c.*700G= (n.*700G=) c.2352G= (p.Gln784=) c.979G= (n.979G=) c.2174-1820G= (n.2174-1820G=) c.756G= (p.Gln252=) c.1782G= (p.Gln594=) | |
| X | g.67721866G>T | CA413426539 | AR | c.*700G>T (n.*700G>T) c.2352G>T (p.Gln784His) c.979G>T (n.979G>T) c.2174-1820G>T (n.2174-1820G>T) c.756G>T (p.Gln252His) c.1782G>T (p.Gln594His) | |
| X | g.67721870_67721871del | CA2695234352 | AR | c.*704_*705del (n.*704_*705del) c.2356_2357del (p.Val786ProfsTer?) c.983_984del (n.983_984del) c.2174-1816_2174-1815del (n.2174-1816_2174-1815del) c.760_761del (p.Val254ProfsTer?) c.1786_1787del (p.Val596ProfsTer?) | |
| X | g.67721867T>A | CA413426543 | AR | c.*701T>A (n.*701T>A) c.2353T>A (p.Cys785Ser) c.980T>A (n.980T>A) c.2174-1819T>A (n.2174-1819T>A) c.757T>A (p.Cys253Ser) c.1783T>A (p.Cys595Ser) | dbSNP |
| X | g.67721867T>C | CA413426545 | AR | c.*701T>C (n.*701T>C) c.2353T>C (p.Cys785Arg) c.980T>C (n.980T>C) c.2174-1819T>C (n.2174-1819T>C) c.757T>C (p.Cys253Arg) c.1783T>C (p.Cys595Arg) | |
| X | g.67721867T>G | CA413426548 | AR | c.*701T>G (n.*701T>G) c.2353T>G (p.Cys785Gly) c.980T>G (n.980T>G) c.2174-1819T>G (n.2174-1819T>G) c.757T>G (p.Cys253Gly) c.1783T>G (p.Cys595Gly) | |
| X | g.67721868G>A | CA413426552 | AR | c.*702G>A (n.*702G>A) c.2354G>A (p.Cys785Tyr) c.981G>A (n.981G>A) c.2174-1818G>A (n.2174-1818G>A) c.758G>A (p.Cys253Tyr) c.1784G>A (p.Cys595Tyr) | |
| X | g.67721868G>C | CA413426554 | AR | c.*702G>C (n.*702G>C) c.2354G>C (p.Cys785Ser) c.981G>C (n.981G>C) c.2174-1818G>C (n.2174-1818G>C) c.758G>C (p.Cys253Ser) c.1784G>C (p.Cys595Ser) | |
| X | g.67721868G>T | CA413426556 | AR | c.*702G>T (n.*702G>T) c.2354G>T (p.Cys785Phe) c.981G>T (n.981G>T) c.2174-1818G>T (n.2174-1818G>T) c.758G>T (p.Cys253Phe) c.1784G>T (p.Cys595Phe) | |
| X | g.67721869T>A | CA413426559 | AR | c.*703T>A (n.*703T>A) c.2355T>A (p.Cys785Ter) c.982T>A (n.982T>A) c.2174-1817T>A (n.2174-1817T>A) c.759T>A (p.Cys253Ter) c.1785T>A (p.Cys595Ter) | dbSNP |
| X | g.67721869T>C | CA516970692 | AR | c.*703T>C (n.*703T>C) c.2355T>C (p.Cys785=) c.982T>C (n.982T>C) c.2174-1817T>C (n.2174-1817T>C) c.759T>C (p.Cys253=) c.1785T>C (p.Cys595=) | |
| X | g.67721869T>G | CA413426561 | AR | c.*703T>G (n.*703T>G) c.2355T>G (p.Cys785Trp) c.982T>G (n.982T>G) c.2174-1817T>G (n.2174-1817T>G) c.759T>G (p.Cys253Trp) c.1785T>G (p.Cys595Trp) | |
| X | g.67721870G>A | CA413426570 | AR | c.*704G>A (n.*704G>A) c.2356G>A (p.Val786Ile) c.983G>A (n.983G>A) c.2174-1816G>A (n.2174-1816G>A) c.760G>A (p.Val254Ile) c.1786G>A (p.Val596Ile) | dbSNP |
| X | g.67721870G>C | CA413426565 | AR | c.*704G>C (n.*704G>C) c.2356G>C (p.Val786Leu) c.983G>C (n.983G>C) c.2174-1816G>C (n.2174-1816G>C) c.760G>C (p.Val254Leu) c.1786G>C (p.Val596Leu) | dbSNP |
| X | g.67721870G>T | CA413426568 | AR | c.*704G>T (n.*704G>T) c.2356G>T (p.Val786Phe) c.983G>T (n.983G>T) c.2174-1816G>T (n.2174-1816G>T) c.760G>T (p.Val254Phe) c.1786G>T (p.Val596Phe) | gnomAD v4 |
| X | g.67721871T>A | CA413426572 | AR | c.*705T>A (n.*705T>A) c.2357T>A (p.Val786Asp) c.984T>A (n.984T>A) c.2174-1815T>A (n.2174-1815T>A) c.761T>A (p.Val254Asp) c.1787T>A (p.Val596Asp) | dbSNP |
| X | g.67721871T>C | CA413426575 | AR | c.*705T>C (n.*705T>C) c.2357T>C (p.Val786Ala) c.984T>C (n.984T>C) c.2174-1815T>C (n.2174-1815T>C) c.761T>C (p.Val254Ala) c.1787T>C (p.Val596Ala) | |
| X | g.67721871T>G | CA413426577 | AR | c.*705T>G (n.*705T>G) c.2357T>G (p.Val786Gly) c.984T>G (n.984T>G) c.2174-1815T>G (n.2174-1815T>G) c.761T>G (p.Val254Gly) c.1787T>G (p.Val596Gly) |