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.67711573T>A | CA413423316 | AR | c.*405T>A (n.*405T>A) c.2057T>A (p.Val686Glu) c.684T>A (n.684T>A) c.461T>A (p.Val154Glu) c.1487T>A (p.Val496Glu) | dbSNP |
| X | g.67711573T>C | CA413423317 | AR | c.*405T>C (n.*405T>C) c.2057T>C (p.Val686Ala) c.684T>C (n.684T>C) c.461T>C (p.Val154Ala) c.1487T>C (p.Val496Ala) | |
| X | g.67711573T>G | CA413423318 | AR | c.*405T>G (n.*405T>G) c.2057T>G (p.Val686Gly) c.684T>G (n.684T>G) c.461T>G (p.Val154Gly) c.1487T>G (p.Val496Gly) | dbSNP |
| X | g.67711573_67711580dup | CA2695234361 | AR | c.*405_*412dup (n.*405_*412dup) c.2057_2064dup (p.Gly689CysfsTer?) c.684_691dup (n.684_691dup) c.461_468dup (p.Gly157CysfsTer?) c.1487_1494dup (p.Gly499CysfsTer?) | |
| X | g.67711574G>A | CA517048385 | AR | c.*406G>A (n.*406G>A) c.2058G>A (p.Val686=) c.685G>A (n.685G>A) c.462G>A (p.Val154=) c.1488G>A (p.Val496=) | dbSNP |
| X | g.67711574G>C | CA517048387 | AR | c.*406G>C (n.*406G>C) c.2058G>C (p.Val686=) c.685G>C (n.685G>C) c.462G>C (p.Val154=) c.1488G>C (p.Val496=) | dbSNP |
| X | g.67711574G>T | CA517048389 | AR | c.*406G>T (n.*406G>T) c.2058G>T (p.Val686=) c.685G>T (n.685G>T) c.462G>T (p.Val154=) c.1488G>T (p.Val496=) | gnomAD v4 |
| X | g.67711575T>A | CA413423319 | AR | c.*407T>A (n.*407T>A) c.2059T>A (p.Cys687Ser) c.686T>A (n.686T>A) c.463T>A (p.Cys155Ser) c.1489T>A (p.Cys497Ser) | dbSNP |
| X | g.67711575T>C | CA413423320 | AR | c.*407T>C (n.*407T>C) c.2059T>C (p.Cys687Arg) c.686T>C (n.686T>C) c.463T>C (p.Cys155Arg) c.1489T>C (p.Cys497Arg) | ClinVar |
| X | g.67711575T>G | CA413423321 | AR | c.*407T>G (n.*407T>G) c.2059T>G (p.Cys687Gly) c.686T>G (n.686T>G) c.463T>G (p.Cys155Gly) c.1489T>G (p.Cys497Gly) | dbSNP |
| X | g.67711576G>A | CA413423324 | AR | c.*408G>A (n.*408G>A) c.2060G>A (p.Cys687Tyr) c.687G>A (n.687G>A) c.464G>A (p.Cys155Tyr) c.1490G>A (p.Cys497Tyr) | dbSNP |
| X | g.67711576G>C | CA413423322 | AR | c.*408G>C (n.*408G>C) c.2060G>C (p.Cys687Ser) c.687G>C (n.687G>C) c.464G>C (p.Cys155Ser) c.1490G>C (p.Cys497Ser) | dbSNP |
| X | g.67711576G>T | CA413423323 | AR | c.*408G>T (n.*408G>T) c.2060G>T (p.Cys687Phe) c.687G>T (n.687G>T) c.464G>T (p.Cys155Phe) c.1490G>T (p.Cys497Phe) | |
| X | g.67711577T>A | CA413423325 | AR | c.*409T>A (n.*409T>A) c.2061T>A (p.Cys687Ter) c.688T>A (n.688T>A) c.465T>A (p.Cys155Ter) c.1491T>A (p.Cys497Ter) | dbSNP |
| X | g.67711577T>C | CA517048395 | AR | c.*409T>C (n.*409T>C) c.2061T>C (p.Cys687=) c.688T>C (n.688T>C) c.465T>C (p.Cys155=) c.1491T>C (p.Cys497=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711577T>G | CA413423326 | AR | c.*409T>G (n.*409T>G) c.2061T>G (p.Cys687Trp) c.688T>G (n.688T>G) c.465T>G (p.Cys155Trp) c.1491T>G (p.Cys497Trp) | dbSNP |
| X | g.67711577T= | CA2435130492 | AR | c.*409T= (n.*409T=) c.2061T= (p.Cys687=) c.688T= (n.688T=) c.465T= (p.Cys155=) c.1491T= (p.Cys497=) | |
| X | g.67711578G>A | CA413423327 | AR | c.*410G>A (n.*410G>A) c.2062G>A (p.Ala688Thr) c.689G>A (n.689G>A) c.466G>A (p.Ala156Thr) c.1492G>A (p.Ala498Thr) | dbSNP |
| X | g.67711578G>C | CA413423328 | AR | c.*410G>C (n.*410G>C) c.2062G>C (p.Ala688Pro) c.689G>C (n.689G>C) c.466G>C (p.Ala156Pro) c.1492G>C (p.Ala498Pro) | dbSNP |
| X | g.67711578G>T | CA413423329 | AR | c.*410G>T (n.*410G>T) c.2062G>T (p.Ala688Ser) c.689G>T (n.689G>T) c.466G>T (p.Ala156Ser) c.1492G>T (p.Ala498Ser) | dbSNP gnomAD v4 |
| X | g.67711579C>A | CA413423330 | AR | c.*411C>A (n.*411C>A) c.2063C>A (p.Ala688Asp) c.690C>A (n.690C>A) c.467C>A (p.Ala156Asp) c.1493C>A (p.Ala498Asp) | dbSNP |
| X | g.67711579C>G | CA413423332 | AR | c.*411C>G (n.*411C>G) c.2063C>G (p.Ala688Gly) c.690C>G (n.690C>G) c.467C>G (p.Ala156Gly) c.1493C>G (p.Ala498Gly) | dbSNP |
| X | g.67711579C>T | CA413423331 | AR | c.*411C>T (n.*411C>T) c.2063C>T (p.Ala688Val) c.690C>T (n.690C>T) c.467C>T (p.Ala156Val) c.1493C>T (p.Ala498Val) | dbSNP |
| X | g.67711580T>A | CA517048403 | AR | c.*412T>A (n.*412T>A) c.2064T>A (p.Ala688=) c.691T>A (n.691T>A) c.468T>A (p.Ala156=) c.1494T>A (p.Ala498=) | |
| X | g.67711580T>C | CA517048404 | AR | c.*412T>C (n.*412T>C) c.2064T>C (p.Ala688=) c.691T>C (n.691T>C) c.468T>C (p.Ala156=) c.1494T>C (p.Ala498=) | |
| X | g.67711580T>G | CA517048405 | AR | c.*412T>G (n.*412T>G) c.2064T>G (p.Ala688=) c.691T>G (n.691T>G) c.468T>G (p.Ala156=) c.1494T>G (p.Ala498=) | |
| X | g.67711581G>A | CA413423333 | AR | c.*413G>A (n.*413G>A) c.2065G>A (p.Gly689Arg) c.692G>A (n.692G>A) c.469G>A (p.Gly157Arg) c.1495G>A (p.Gly499Arg) | dbSNP |
| X | g.67711581G>C | CA413423334 | AR | c.*413G>C (n.*413G>C) c.2065G>C (p.Gly689Arg) c.692G>C (n.692G>C) c.469G>C (p.Gly157Arg) c.1495G>C (p.Gly499Arg) | dbSNP |
| X | g.67711581G>T | CA413423335 | AR | c.*413G>T (n.*413G>T) c.2065G>T (p.Gly689Ter) c.692G>T (n.692G>T) c.469G>T (p.Gly157Ter) c.1495G>T (p.Gly499Ter) | |
| X | g.67711582G>A | CA413423336 | AR | c.*414G>A (n.*414G>A) c.2066G>A (p.Gly689Glu) c.693G>A (n.693G>A) c.470G>A (p.Gly157Glu) c.1496G>A (p.Gly499Glu) | dbSNP |
| X | g.67711582G>C | CA413423337 | AR | c.*414G>C (n.*414G>C) c.2066G>C (p.Gly689Ala) c.693G>C (n.693G>C) c.470G>C (p.Gly157Ala) c.1496G>C (p.Gly499Ala) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.67711582G>T | CA413423338 | AR | c.*414G>T (n.*414G>T) c.2066G>T (p.Gly689Val) c.693G>T (n.693G>T) c.470G>T (p.Gly157Val) c.1496G>T (p.Gly499Val) | dbSNP |
| X | g.67711583A>C | CA517048407 | AR | c.*415A>C (n.*415A>C) c.2067A>C (p.Gly689=) c.694A>C (n.694A>C) c.471A>C (p.Gly157=) c.1497A>C (p.Gly499=) | dbSNP |
| X | g.67711583A>G | CA517048409 | AR | c.*415A>G (n.*415A>G) c.2067A>G (p.Gly689=) c.694A>G (n.694A>G) c.471A>G (p.Gly157=) c.1497A>G (p.Gly499=) | dbSNP |
| X | g.67711583A>T | CA517048411 | AR | c.*415A>T (n.*415A>T) c.2067A>T (p.Gly689=) c.694A>T (n.694A>T) c.471A>T (p.Gly157=) c.1497A>T (p.Gly499=) | dbSNP |
| X | g.67711584C>A | CA413423339 | AR | c.*416C>A (n.*416C>A) c.2068C>A (p.His690Asn) c.695C>A (n.695C>A) c.472C>A (p.His158Asn) c.1498C>A (p.His500Asn) | ClinVar dbSNP |
| X | g.67711584C= | CA2435130493 | AR | c.*416C= (n.*416C=) c.2068C= (p.His690=) c.695C= (n.695C=) c.472C= (p.His158=) c.1498C= (p.His500=) | |
| X | g.67711584C>G | CA413423340 | AR | c.*416C>G (n.*416C>G) c.2068C>G (p.His690Asp) c.695C>G (n.695C>G) c.472C>G (p.His158Asp) c.1498C>G (p.His500Asp) | dbSNP |
| X | g.67711584C>T | CA413423341 | AR | c.*416C>T (n.*416C>T) c.2068C>T (p.His690Tyr) c.695C>T (n.695C>T) c.472C>T (p.His158Tyr) c.1498C>T (p.His500Tyr) | dbSNP |
| X | g.67711585A= | CA2435130494 | AR | c.*417A= (n.*417A=) c.2069A= (p.His690=) c.696A= (n.696A=) c.473A= (p.His158=) c.1499A= (p.His500=) | |
| X | g.67711585A>C | CA120783 | AR | c.*417A>C (n.*417A>C) c.2069A>C (p.His690Pro) c.696A>C (n.696A>C) c.473A>C (p.His158Pro) c.1499A>C (p.His500Pro) | ClinVar dbSNP |
| X | g.67711585A>G | CA413423342 | AR | c.*417A>G (n.*417A>G) c.2069A>G (p.His690Arg) c.696A>G (n.696A>G) c.473A>G (p.His158Arg) c.1499A>G (p.His500Arg) | dbSNP |
| X | g.67711585A>T | CA413423343 | AR | c.*417A>T (n.*417A>T) c.2069A>T (p.His690Leu) c.696A>T (n.696A>T) c.473A>T (p.His158Leu) c.1499A>T (p.His500Leu) | dbSNP |
| X | g.67711587_67711589del | CA2695234362 | AR | c.*419_*421del (n.*419_*421del) c.2071_2073del (p.Asp691del) c.698_700del (n.698_700del) c.475_477del (p.Asp159del) c.1501_1503del (p.Asp501del) | |
| X | g.67711586C>A | CA413423344 | AR | c.*418C>A (n.*418C>A) c.2070C>A (p.His690Gln) c.697C>A (n.697C>A) c.474C>A (p.His158Gln) c.1500C>A (p.His500Gln) | |
| X | g.67711586C= | CA2435130495 | AR | c.*418C= (n.*418C=) c.2070C= (p.His690=) c.697C= (n.697C=) c.474C= (p.His158=) c.1500C= (p.His500=) | |
| X | g.67711586C>G | CA413423345 | AR | c.*418C>G (n.*418C>G) c.2070C>G (p.His690Gln) c.697C>G (n.697C>G) c.474C>G (p.His158Gln) c.1500C>G (p.His500Gln) | ClinVar dbSNP |
| X | g.67711586C>T | CA10436571 | AR | c.*418C>T (n.*418C>T) c.2070C>T (p.His690=) c.697C>T (n.697C>T) c.474C>T (p.His158=) c.1500C>T (p.His500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.67711587G>A | CA330771346 | AR | c.*419G>A (n.*419G>A) c.2071G>A (p.Asp691Asn) c.698G>A (n.698G>A) c.475G>A (p.Asp159Asn) c.1501G>A (p.Asp501Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711587G>C | CA413423347 | AR | c.*419G>C (n.*419G>C) c.2071G>C (p.Asp691His) c.698G>C (n.698G>C) c.475G>C (p.Asp159His) c.1501G>C (p.Asp501His) | dbSNP |