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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511547G>C;81511571A>T;81511579C>T;81511581G>C;81511613G>C] , CM000679.2:g.[81511547G>C;81511571A>T;81511579C>T;81511581G>C;81511613G>C] | GRCh38 |
| NC_000017.10:g.[79478573G>C;79478597A>T;79478605C>T;79478607G>C;79478639G>C] , CM000679.1:g.[79478573G>C;79478597A>T;79478605C>T;79478607G>C;79478639G>C] | GRCh37 |
| NC_000017.9:g.[77093168G>C;77093192A>T;77093200C>T;77093202G>C;77093234G>C] | NCBI36 |
| NG_011433.1:g.[6189C>G;6221C>G;6223G>A;6231T>A;6255C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000466346.2:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000571691.6:c.[340-35C>G;340-3C>G;340-1G>A;347T>A;371C>G] | ENSP00000461407.2:p.[Leu116Gln;Thr124Ser] | |
| ENST00000571721.6:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000460660.2:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000572105.7:c.[418C>G;450C>G;452G>A;460T>A;484C>G] | ENSP00000462823.1:p.[Pro140Ala;Ser150=;Arg151Lys;Cys154Ser;Pr... | |
| ENST00000573283.7:c.[377C>G;409C>G;411G>A;419T>A;443C>G] MANE Select | ENSP00000458435.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000574671.6:n.[777C>G;809C>G;811G>A;819T>A;843C>G] | ||
| ENST00000575659.6:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000459119.2:p.[Thr126Ser;Gln137Gly;Leu140Gln;Thr148Ser]... | |
| ENST00000575994.6:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000460464.2:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000576214.3:n.[678C>G;710C>G;712G>A;720T>A;744C>G] | ||
| ENST00000576544.6:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000461672.1:p.[Thr126Ser;Gln137Gly;Leu140Gln;Thr148Ser]... | |
| ENST00000615544.5:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000477968.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000644774.2:c.[350C>G;382C>G;384G>A;392T>A;416C>G] | ENSP00000493648.2:p.[Thr117Ser;Gln128Glu;Gln128=;Leu131Gln;Th... | |
| ENST00000679410.1:n.[501C>G;533C>G;535G>A;543T>A;567C>G] | ||
| ENST00000679480.1:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000506201.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000679535.1:n.[678C>G;710C>G;712G>A;720T>A;744C>G] | ||
| ENST00000679778.1:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000505235.1:p.[Thr126Ser;Gln137Val;Leu140Gln;Thr148Ser]... | |
| ENST00000680227.1:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000506253.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000680727.1:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000505193.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000681052.1:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000505060.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000681092.1:c.[*181C>G;*213C>G;*215G>A;*223T>A;*247C>G] | ENSP00000506720.1:n.[*181C>G;*213C>G;*215G>A;*223T>A;*247C>G]... | |
| ENST00000681842.1:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000506126.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000331925.6:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000331514.2:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000570382.1:c.[340-35C>G;340-3C>G;340-1G>A;347T>A;371C>G] | ENSP00000466346.1:p.[Leu116Gln;Thr124Ser] | |
| ENST00000571691.5:c.[350C>G;382C>G;384G>A;392T>A;416C>G] | ENSP00000461407.1:p.[Thr117Ser;Gln128Glu;Gln128=;Leu131Gln;Th... | |
| ENST00000571721.5:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000460660.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000572105.6:c.[418C>G;450C>G;452G>A;460T>A;484C>G] | ENSP00000462823.1:p.[Pro140Ala;Ser150=;Arg151Lys;Cys154Ser;Pr... | |
| ENST00000573283.5:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000458435.1:p.[Thr126Ser;Gln137Ala;Leu140Gln;Thr148Ser]... | |
| ENST00000574671.5:n.[236C>G;268C>G;270G>A;278T>A;302C>G] | ||
| ENST00000575087.5:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000459124.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000575659.5:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000459119.1:p.[Thr126Ser;Gln137Gly;Leu140Gln;Thr148Ser]... | |
| ENST00000575842.5:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000458162.1:p.[Thr126Ser;Gln137Gly;Leu140Gln;Thr148Ser]... | |
| ENST00000575994.5:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000460464.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Th... | |
| ENST00000576209.5:n.[262C>G;294C>G;296G>A;304T>A;328C>G] | ||
| ENST00000576214.2:n.[575C>G;607C>G;609G>A;617T>A;641C>G] | ||
| ENST00000576544.5:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000461672.1:p.[Thr126Ser;Gln137Gly;Leu140Gln;Thr148Ser]... | |
| ENST00000576917.5:n.[430C>G;462C>G;464G>A;472T>A;496C>G] | ||
| ENST00000615544.4:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | ENSP00000477968.1:p.[Thr126Ser;Gln137Gly;Leu140Gln;Thr148Ser]... | |
| NM_001199954.1:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | NP_001186883.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Thr14... | |
| NM_001614.3:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | NP_001605.1:p.[Thr126Ser;Gln137Gly;Leu140Gln;Thr148Ser] | |
| NR_037688.1:n.[516C>G;548C>G;550G>A;558T>A;582C>G] | ||
| NM_001199954.2:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | NP_001186883.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Thr14... | |
| NM_001614.4:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | NP_001605.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Thr148Se... | |
| NR_037688.2:n.[449C>G;481C>G;483G>A;491T>A;515C>G] | ||
| NM_001614.5:c.[377C>G;409C>G;411G>A;419T>A;443C>G] MANE Select | NP_001605.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Thr148Se... | |
| NR_037688.3:n.[449C>G;481C>G;483G>A;491T>A;515C>G] | ||
| NM_001199954.3:c.[377C>G;409C>G;411G>A;419T>A;443C>G] | NP_001186883.1:p.[Thr126Ser;Gln137Glu;Gln137=;Leu140Gln;Thr14... |