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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>G;81511463A>T;81511465G>C;81511468G>C;81511470C>A;81511489C>G] , CM000679.2:g.[81511436A>G;81511463A>T;81511465G>C;81511468G>C;81511470C>A;81511489C>G] | GRCh38 |
| NC_000017.10:g.[79478462A>G;79478489A>T;79478491G>C;79478494G>C;79478496C>A;79478515C>G] , CM000679.1:g.[79478462A>G;79478489A>T;79478491G>C;79478494G>C;79478496C>A;79478515C>G] | GRCh37 |
| NC_000017.9:g.[77093057A>G;77093084A>T;77093086G>C;77093089G>C;77093091C>A;77093110C>G] | NCBI36 |
| NG_011433.1:g.[6313G>C;6332G>T;6334C>G;6337C>G;6339T>A;6366T>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000466346.2:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175Met;Le... | |
| ENST00000571691.6:c.[429G>C;448G>T;450C>G;453C>G;455T>A;482T>C] | ENSP00000461407.2:p.[Glu143Asp;Ala150Ser;Ala150=;Ile151Met;Le... | |
| ENST00000571721.6:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000460660.2:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175Met;Le... | |
| ENST00000572105.7:c.[542G>C;561G>T;563C>G;566C>G;568T>A;595T>C] | ENSP00000462823.1:p.[Arg181Thr;Thr187=;Pro188Arg;Ser189Cys;Cy... | |
| ENST00000573283.7:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] MANE Select | ENSP00000458435.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175Met;Le... | |
| ENST00000574671.6:n.[901G>C;920G>T;922C>G;925C>G;927T>A;954T>C] | ||
| ENST00000575659.6:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000459119.2:p.[Glu167Asp;Ala174Ser;Ile175Met;Leu176Gln;... | |
| ENST00000575994.6:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000460464.2:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175MetfsT... | |
| ENST00000576214.3:n.[802G>C;821G>T;823C>G;826C>G;828T>A;855T>C] | ||
| ENST00000576544.6:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000461672.1:p.[Glu167Asp;Ala174Ser;Ile175Met;Leu176Gln;... | |
| ENST00000615544.5:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000477968.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175_Leu17... | |
| ENST00000644774.2:c.[474G>C;493G>T;495C>G;498C>G;500T>A;527T>C] | ENSP00000493648.2:p.[Glu158Asp;Ala165Ser;Ala165=;Ile166Met;Le... | |
| ENST00000679410.1:n.[625G>C;644G>T;646C>G;649C>G;651T>A;678T>C] | ||
| ENST00000679480.1:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000506201.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175_Leu17... | |
| ENST00000679535.1:n.[802G>C;821G>T;823C>G;826C>G;828T>A;855T>C] | ||
| ENST00000679778.1:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000505235.1:p.[Glu167Asp;Ala174Ser;Ile175Met;Leu176Gln;... | |
| ENST00000680227.1:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000506253.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175Met;Le... | |
| ENST00000680727.1:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000505193.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175Met;Le... | |
| ENST00000681052.1:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000505060.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175_Leu17... | |
| ENST00000681092.1:c.[*305G>C;*324G>T;*326C>G;*329C>G;*331T>A;*358T>C] | ENSP00000506720.1:n.[*305G>C;*324G>T;*326C>G;*329C>G;*331T>A;... | |
| ENST00000681842.1:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000506126.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175Met;Le... | |
| ENST00000331925.6:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000331514.2:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175Met;Le... | |
| ENST00000571691.5:c.[474G>C;493G>T;495C>G;498C>G;500T>A;527T>C] | ENSP00000461407.1:p.[Glu158Asp;Ala165Ser;Ala165=;Ile166Met;Le... | |
| ENST00000572105.6:c.[542G>C;561G>T;563C>G;566C>G;568T>A;595T>C] | ENSP00000462823.1:p.[Arg181Thr;Thr187=;Pro188Arg;Ser189_Cys19... | |
| ENST00000573283.5:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000458435.1:p.[Glu167Asp;Ala174Ter] | |
| ENST00000574671.5:n.[360G>C;379G>T;381C>G;384C>G;386T>A;413T>C] | ||
| ENST00000575087.5:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000459124.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175_Leu17... | |
| ENST00000575659.5:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000459119.1:p.[Glu167Asp;Ala174Ser;Ile175Met;Leu176Gln;... | |
| ENST00000575842.5:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000458162.1:p.[Glu167Asp;Ala174Leu;Ile175Met;Leu176Gln;... | |
| ENST00000575994.5:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000460464.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175MetfsT... | |
| ENST00000576209.5:n.[386G>C;405G>T;407C>G;410C>G;412T>A;439T>C] | ||
| ENST00000576214.2:n.[699G>C;718G>T;720C>G;723C>G;725T>A;752T>C] | ||
| ENST00000576544.5:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000461672.1:p.[Glu167Asp;Ala174Ser;Ile175Met;Leu176Gln;... | |
| ENST00000576917.5:n.[554G>C;573G>T;575C>G;578C>G;580T>A;607T>C] | ||
| ENST00000615544.4:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | ENSP00000477968.1:p.[Glu167Asp;Ala174Ser;Ile175Met;Leu176Gln;... | |
| NM_001199954.1:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | NP_001186883.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175Met;Leu17... | |
| NM_001614.3:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | NP_001605.1:p.[Glu167Asp;Ala174Ser;Ile175Met;Leu176Gln;Leu185... | |
| NR_037688.1:n.[640G>C;659G>T;661C>G;664C>G;666T>A;693T>C] | ||
| NM_001199954.2:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | NP_001186883.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175_Leu176de... | |
| NM_001614.4:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | NP_001605.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175Met;Leu176Gl... | |
| NR_037688.2:n.[573G>C;592G>T;594C>G;597C>G;599T>A;626T>C] | ||
| NM_001614.5:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] MANE Select | NP_001605.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175Met;Leu176Gl... | |
| NR_037688.3:n.[573G>C;592G>T;594C>G;597C>G;599T>A;626T>C] | ||
| NM_001199954.3:c.[501G>C;520G>T;522C>G;525C>G;527T>A;554T>C] | NP_001186883.1:p.[Glu167Asp;Ala174Ser;Ala174=;Ile175_Leu176de... |