This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511455C>G;81511457A>T;81511485A>C;81511490T=;81511523C>G] , CM000679.2:g.[81511455C>G;81511457A>T;81511485A>C;81511490T=;81511523C>G] | GRCh38 |
| NC_000017.10:g.[79478481C>G;79478483A>T;79478511A>C;79478516T=;79478549C>G] , CM000679.1:g.[79478481C>G;79478483A>T;79478511A>C;79478516T=;79478549C>G] | GRCh37 |
| NC_000017.9:g.[77093076C>G;77093078A>T;77093106A>C;77093111T=;77093144C>G] | NCBI36 |
| NG_011433.1:g.[6279G>C;6312A=;6317T>G;6345T>A;6347G>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000466346.2:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178_Asp17... | |
| ENST00000571691.6:c.[395G>C;428A=;433T>G;461T>A;463G>C] | ENSP00000461407.2:p.[Gly132Ala;Glu143=;Tyr145Asp;Leu154_Asp15... | |
| ENST00000571721.6:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000460660.2:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178_Asp17... | |
| ENST00000572105.7:c.[508G>C;541A=;546T>G;574T>A;576G>C] | ENSP00000462823.1:p.[Glu170Gln;Arg181=;Ala182=;Trp192Ser] | |
| ENST00000573283.7:c.[467G>C;500A=;505T>G;533T>A;535G>C] MANE Select | ENSP00000458435.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178_Asp17... | |
| ENST00000574671.6:n.[867G>C;900A=;905T>G;933T>A;935G>C] | ||
| ENST00000575659.6:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000459119.2:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000575994.6:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000460464.2:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000576214.3:n.[768G>C;801A=;806T>G;834T>A;836G>C] | ||
| ENST00000576544.6:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000461672.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000615544.5:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000477968.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000644774.2:c.[440G>C;473A=;478T>G;506T>A;508G>C] | ENSP00000493648.2:p.[Gly147Ala;Glu158=;Tyr160Asp;Leu169_Asp17... | |
| ENST00000679410.1:n.[591G>C;624A=;629T>G;657T>A;659G>C] | ||
| ENST00000679480.1:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000506201.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000679535.1:n.[768G>C;801A=;806T>G;834T>A;836G>C] | ||
| ENST00000679778.1:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000505235.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000680227.1:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000506253.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178_Asp17... | |
| ENST00000680727.1:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000505193.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178_Asp17... | |
| ENST00000681052.1:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000505060.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000681092.1:c.[*271G>C;*304A=;*309T>G;*337T>A;*339G>C] | ENSP00000506720.1:n.[*271G>C;*304A=;*309T>G;*337T>A;*339G>C] | |
| ENST00000681842.1:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000506126.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178_Asp17... | |
| ENST00000331925.6:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000331514.2:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178_Asp17... | |
| ENST00000571691.5:c.[440G>C;473A=;478T>G;506T>A;508G>C] | ENSP00000461407.1:p.[Gly147Ala;Glu158=;Tyr160Asp;Leu169_Asp17... | |
| ENST00000572105.6:c.[508G>C;541A=;546T>G;574T>A;576G>C] | ENSP00000462823.1:p.[Glu170Gln;Arg181=;Ala182=;Trp192Arg;Trp1... | |
| ENST00000573283.5:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000458435.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000574671.5:n.[326G>C;359A=;364T>G;392T>A;394G>C] | ||
| ENST00000575087.5:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000459124.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000575659.5:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000459119.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000575842.5:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000458162.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000575994.5:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000460464.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000576209.5:n.[352G>C;385A=;390T>G;418T>A;420G>C] | ||
| ENST00000576214.2:n.[665G>C;698A=;703T>G;731T>A;733G>C] | ||
| ENST00000576544.5:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000461672.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| ENST00000576917.5:n.[520G>C;553A=;558T>G;586T>A;588G>C] | ||
| ENST00000615544.4:c.[467G>C;500A=;505T>G;533T>A;535G>C] | ENSP00000477968.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;As... | |
| NM_001199954.1:c.[467G>C;500A=;505T>G;533T>A;535G>C] | NP_001186883.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178_Asp179de... | |
| NM_001614.3:c.[467G>C;500A=;505T>G;533T>A;535G>C] | NP_001605.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;Asp179Hi... | |
| NR_037688.1:n.[606G>C;639A=;644T>G;672T>A;674G>C] | ||
| NM_001199954.2:c.[467G>C;500A=;505T>G;533T>A;535G>C] | NP_001186883.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;Asp17... | |
| NM_001614.4:c.[467G>C;500A=;505T>G;533T>A;535G>C] | NP_001605.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178_Asp179delin... | |
| NR_037688.2:n.[539G>C;572A=;577T>G;605T>A;607G>C] | ||
| NM_001614.5:c.[467G>C;500A=;505T>G;533T>A;535G>C] MANE Select | NP_001605.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178_Asp179delin... | |
| NR_037688.3:n.[539G>C;572A=;577T>G;605T>A;607G>C] | ||
| NM_001199954.3:c.[467G>C;500A=;505T>G;533T>A;535G>C] | NP_001186883.1:p.[Gly156Ala;Glu167=;Tyr169Asp;Leu178Gln;Asp17... |