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.67711384_67711484del | CA2693950049 | AR | c.*234-18_*316del c.1886-18_1968del c.513-18_595del c.290-18_372del c.1316-18_1398del | gnomAD v4 |
| X | g.67711452G>A | CA413423057 | AR | c.*284G>A (n.*284G>A) c.1936G>A (p.Ala646Thr) c.563G>A (n.563G>A) c.340G>A (p.Ala114Thr) c.1366G>A (p.Ala456Thr) | dbSNP |
| X | g.67711452G>C | CA413423058 | AR | c.*284G>C (n.*284G>C) c.1936G>C (p.Ala646Pro) c.563G>C (n.563G>C) c.340G>C (p.Ala114Pro) c.1366G>C (p.Ala456Pro) | dbSNP |
| X | g.67711452G>T | CA413423059 | AR | c.*284G>T (n.*284G>T) c.1936G>T (p.Ala646Ser) c.563G>T (n.563G>T) c.340G>T (p.Ala114Ser) c.1366G>T (p.Ala456Ser) | gnomAD v4 |
| X | g.67711453C>A | CA120795 | AR | c.*285C>A (n.*285C>A) c.1937C>A (p.Ala646Asp) c.564C>A (n.564C>A) c.341C>A (p.Ala114Asp) c.1367C>A (p.Ala456Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711453C= | CA2435130444 | AR | c.*285C= (n.*285C=) c.1937C= (p.Ala646=) c.564C= (n.564C=) c.341C= (p.Ala114=) c.1367C= (p.Ala456=) | |
| X | g.67711453C>G | CA413423060 | AR | c.*285C>G (n.*285C>G) c.1937C>G (p.Ala646Gly) c.564C>G (n.564C>G) c.341C>G (p.Ala114Gly) c.1367C>G (p.Ala456Gly) | dbSNP |
| X | g.67711453C>T | CA413423061 | AR | c.*285C>T (n.*285C>T) c.1937C>T (p.Ala646Val) c.564C>T (n.564C>T) c.341C>T (p.Ala114Val) c.1367C>T (p.Ala456Val) | dbSNP |
| X | g.67711454T>A | CA517048153 | AR | c.*286T>A (n.*286T>A) c.1938T>A (p.Ala646=) c.565T>A (n.565T>A) c.342T>A (p.Ala114=) c.1368T>A (p.Ala456=) | dbSNP |
| X | g.67711454T>C | CA517048154 | AR | c.*286T>C (n.*286T>C) c.1938T>C (p.Ala646=) c.565T>C (n.565T>C) c.342T>C (p.Ala114=) c.1368T>C (p.Ala456=) | dbSNP |
| X | g.67711454T>G | CA517048157 | AR | c.*286T>G (n.*286T>G) c.1938T>G (p.Ala646=) c.565T>G (n.565T>G) c.342T>G (p.Ala114=) c.1368T>G (p.Ala456=) | dbSNP |
| X | g.67711455T>A | CA413423062 | AR | c.*287T>A (n.*287T>A) c.1939T>A (p.Ser647Thr) c.566T>A (n.566T>A) c.343T>A (p.Ser115Thr) c.1369T>A (p.Ser457Thr) | |
| X | g.67711455T>C | CA413423063 | AR | c.*287T>C (n.*287T>C) c.1939T>C (p.Ser647Pro) c.566T>C (n.566T>C) c.343T>C (p.Ser115Pro) c.1369T>C (p.Ser457Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711455T>G | CA413423064 | AR | c.*287T>G (n.*287T>G) c.1939T>G (p.Ser647Ala) c.566T>G (n.566T>G) c.343T>G (p.Ser115Ala) c.1369T>G (p.Ser457Ala) | |
| X | g.67711455T= | CA2435130445 | AR | c.*287T= (n.*287T=) c.1939T= (p.Ser647=) c.566T= (n.566T=) c.343T= (p.Ser115=) c.1369T= (p.Ser457=) | |
| X | g.67711456C>A | CA413423067 | AR | c.*288C>A (n.*288C>A) c.1940C>A (p.Ser647Tyr) c.567C>A (n.567C>A) c.344C>A (p.Ser115Tyr) c.1370C>A (p.Ser457Tyr) | |
| X | g.67711456C>G | CA413423065 | AR | c.*288C>G (n.*288C>G) c.1940C>G (p.Ser647Cys) c.567C>G (n.567C>G) c.344C>G (p.Ser115Cys) c.1370C>G (p.Ser457Cys) | |
| X | g.67711456C>T | CA413423066 | AR | c.*288C>T (n.*288C>T) c.1940C>T (p.Ser647Phe) c.567C>T (n.567C>T) c.344C>T (p.Ser115Phe) c.1370C>T (p.Ser457Phe) | dbSNP |
| X | g.67711457C>A | CA517048161 | AR | c.*289C>A (n.*289C>A) c.1941C>A (p.Ser647=) c.568C>A (n.568C>A) c.345C>A (p.Ser115=) c.1371C>A (p.Ser457=) | dbSNP gnomAD v4 |
| X | g.67711457C>G | CA517048162 | AR | c.*289C>G (n.*289C>G) c.1941C>G (p.Ser647=) c.568C>G (n.568C>G) c.345C>G (p.Ser115=) c.1371C>G (p.Ser457=) | |
| X | g.67711457C>T | CA517048166 | AR | c.*289C>T (n.*289C>T) c.1941C>T (p.Ser647=) c.568C>T (n.568C>T) c.345C>T (p.Ser115=) c.1371C>T (p.Ser457=) | dbSNP |
| X | g.67711458A= | CA2435130446 | AR | c.*290A= (n.*290A=) c.1942A= (p.Ser648=) c.569A= (n.569A=) c.346A= (p.Ser116=) c.1372A= (p.Ser458=) | |
| X | g.67711458A>C | CA413423068 | AR | c.*290A>C (n.*290A>C) c.1942A>C (p.Ser648Arg) c.569A>C (n.569A>C) c.346A>C (p.Ser116Arg) c.1372A>C (p.Ser458Arg) | |
| X | g.67711458A>G | CA413423069 | AR | c.*290A>G (n.*290A>G) c.1942A>G (p.Ser648Gly) c.569A>G (n.569A>G) c.346A>G (p.Ser116Gly) c.1372A>G (p.Ser458Gly) | dbSNP |
| X | g.67711458A>T | CA413423070 | AR | c.*290A>T (n.*290A>T) c.1942A>T (p.Ser648Cys) c.569A>T (n.569A>T) c.346A>T (p.Ser116Cys) c.1372A>T (p.Ser458Cys) | dbSNP |
| X | g.67711459G>A | CA120692 | AR | c.*291G>A (n.*291G>A) c.1943G>A (p.Ser648Asn) c.570G>A (n.570G>A) c.347G>A (p.Ser116Asn) c.1373G>A (p.Ser458Asn) | ClinVar dbSNP COSMIC |
| X | g.67711459G>C | CA413423071 | AR | c.*291G>C (n.*291G>C) c.1943G>C (p.Ser648Thr) c.570G>C (n.570G>C) c.347G>C (p.Ser116Thr) c.1373G>C (p.Ser458Thr) | |
| X | g.67711459G= | CA2435130447 | AR | c.*291G= (n.*291G=) c.1943G= (p.Ser648=) c.570G= (n.570G=) c.347G= (p.Ser116=) c.1373G= (p.Ser458=) | |
| X | g.67711459G>T | CA413423072 | AR | c.*291G>T (n.*291G>T) c.1943G>T (p.Ser648Ile) c.570G>T (n.570G>T) c.347G>T (p.Ser116Ile) c.1373G>T (p.Ser458Ile) | |
| X | g.67711460C>A | CA413423073 | AR | c.*292C>A (n.*292C>A) c.1944C>A (p.Ser648Arg) c.571C>A (n.571C>A) c.348C>A (p.Ser116Arg) c.1374C>A (p.Ser458Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.67711460C= | CA2435130448 | AR | c.*292C= (n.*292C=) c.1944C= (p.Ser648=) c.571C= (n.571C=) c.348C= (p.Ser116=) c.1374C= (p.Ser458=) | |
| X | g.67711460C>G | CA413423074 | AR | c.*292C>G (n.*292C>G) c.1944C>G (p.Ser648Arg) c.571C>G (n.571C>G) c.348C>G (p.Ser116Arg) c.1374C>G (p.Ser458Arg) | dbSNP |
| X | g.67711460C>T | CA517048169 | AR | c.*292C>T (n.*292C>T) c.1944C>T (p.Ser648=) c.571C>T (n.571C>T) c.348C>T (p.Ser116=) c.1374C>T (p.Ser458=) | ClinVar dbSNP |
| X | g.67711461A= | CA2435130449 | AR | c.*293A= (n.*293A=) c.1945A= (p.Thr649=) c.572A= (n.572A=) c.349A= (p.Thr117=) c.1375A= (p.Thr459=) | |
| X | g.67711461A>C | CA330771339 | AR | c.*293A>C (n.*293A>C) c.1945A>C (p.Thr649Pro) c.572A>C (n.572A>C) c.349A>C (p.Thr117Pro) c.1375A>C (p.Thr459Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67711461A>G | CA413423075 | AR | c.*293A>G (n.*293A>G) c.1945A>G (p.Thr649Ala) c.572A>G (n.572A>G) c.349A>G (p.Thr117Ala) c.1375A>G (p.Thr459Ala) | |
| X | g.67711461A>T | CA413423076 | AR | c.*293A>T (n.*293A>T) c.1945A>T (p.Thr649Ser) c.572A>T (n.572A>T) c.349A>T (p.Thr117Ser) c.1375A>T (p.Thr459Ser) | |
| X | g.67711462C>A | CA413423078 | AR | c.*294C>A (n.*294C>A) c.1946C>A (p.Thr649Asn) c.573C>A (n.573C>A) c.350C>A (p.Thr117Asn) c.1376C>A (p.Thr459Asn) | dbSNP |
| X | g.67711462C>G | CA413423079 | AR | c.*294C>G (n.*294C>G) c.1946C>G (p.Thr649Ser) c.573C>G (n.573C>G) c.350C>G (p.Thr117Ser) c.1376C>G (p.Thr459Ser) | dbSNP |
| X | g.67711462C>T | CA413423077 | AR | c.*294C>T (n.*294C>T) c.1946C>T (p.Thr649Ile) c.573C>T (n.573C>T) c.350C>T (p.Thr117Ile) c.1376C>T (p.Thr459Ile) | |
| X | g.67711463C>A | CA517048173 | AR | c.*295C>A (n.*295C>A) c.1947C>A (p.Thr649=) c.574C>A (n.574C>A) c.351C>A (p.Thr117=) c.1377C>A (p.Thr459=) | dbSNP |
| X | g.67711463C>G | CA517048174 | AR | c.*295C>G (n.*295C>G) c.1947C>G (p.Thr649=) c.574C>G (n.574C>G) c.351C>G (p.Thr117=) c.1377C>G (p.Thr459=) | gnomAD v4 |
| X | g.67711463C>T | CA517048175 | AR | c.*295C>T (n.*295C>T) c.1947C>T (p.Thr649=) c.574C>T (n.574C>T) c.351C>T (p.Thr117=) c.1377C>T (p.Thr459=) | ClinVar dbSNP |
| X | g.67711464A= | CA2435130450 | AR | c.*296A= (n.*296A=) c.1948A= (p.Thr650=) c.575A= (n.575A=) c.352A= (p.Thr118=) c.1378A= (p.Thr460=) | |
| X | g.67711464A>C | CA413423080 | AR | c.*296A>C (n.*296A>C) c.1948A>C (p.Thr650Pro) c.575A>C (n.575A>C) c.352A>C (p.Thr118Pro) c.1378A>C (p.Thr460Pro) | dbSNP gnomAD v4 |
| X | g.67711464A>G | CA413423081 | AR | c.*296A>G (n.*296A>G) c.1948A>G (p.Thr650Ala) c.575A>G (n.575A>G) c.352A>G (p.Thr118Ala) c.1378A>G (p.Thr460Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711464A>T | CA413423082 | AR | c.*296A>T (n.*296A>T) c.1948A>T (p.Thr650Ser) c.575A>T (n.575A>T) c.352A>T (p.Thr118Ser) c.1378A>T (p.Thr460Ser) | dbSNP |
| X | g.67711465C>A | CA413423083 | AR | c.*297C>A (n.*297C>A) c.1949C>A (p.Thr650Asn) c.576C>A (n.576C>A) c.353C>A (p.Thr118Asn) c.1379C>A (p.Thr460Asn) | dbSNP |
| X | g.67711465C= | CA2435130451 | AR | c.*297C= (n.*297C=) c.1949C= (p.Thr650=) c.576C= (n.576C=) c.353C= (p.Thr118=) c.1379C= (p.Thr460=) | |
| X | g.67711465C>G | CA413423084 | AR | c.*297C>G (n.*297C>G) c.1949C>G (p.Thr650Ser) c.576C>G (n.576C>G) c.353C>G (p.Thr118Ser) c.1379C>G (p.Thr460Ser) | dbSNP gnomAD v2 gnomAD v4 |