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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>G;81511444G>C;81511456C>A;81511458G>T;81511505G>A] , CM000679.2:g.[81511436A>G;81511444G>C;81511456C>A;81511458G>T;81511505G>A] | GRCh38 |
| NC_000017.10:g.[79478462A>G;79478470G>C;79478482C>A;79478484G>T;79478531G>A] , CM000679.1:g.[79478462A>G;79478470G>C;79478482C>A;79478484G>T;79478531G>A] | GRCh37 |
| NC_000017.9:g.[77093057A>G;77093065G>C;77093077C>A;77093079G>T;77093126G>A] | NCBI36 |
| NG_011433.1:g.[6297C>T;6344C>A;6346G>T;6358C>G;6366T>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000466346.2:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000571691.6:c.[413C>T;460C>A;462G>T;474C>G;482T>C] | ENSP00000461407.2:p.[Thr138Met;Leu154Met;Leu154=;Gly158=;Leu1... | |
| ENST00000571721.6:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000460660.2:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000572105.7:c.[526C>T;573C>A;575G>T;587C>G;595T>C] | ENSP00000462823.1:p.[Arg176Trp;Val191=;Trp192Leu;Ala196Gly;Te... | |
| ENST00000573283.7:c.[485C>T;532C>A;534G>T;546C>G;554T>C] MANE Select | ENSP00000458435.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000574671.6:n.[885C>T;932C>A;934G>T;946C>G;954T>C] | ||
| ENST00000575659.6:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000459119.2:p.[Thr162Met;Leu178Ser;Gly182=;Leu185Pro] | |
| ENST00000575994.6:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000460464.2:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000576214.3:n.[786C>T;833C>A;835G>T;847C>G;855T>C] | ||
| ENST00000576544.6:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000461672.1:p.[Thr162Met;Leu178Ser;Gly182=;Leu185Pro] | |
| ENST00000615544.5:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000477968.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000644774.2:c.[458C>T;505C>A;507G>T;519C>G;527T>C] | ENSP00000493648.2:p.[Thr153Met;Leu169Met;Leu169=;Gly173=;Leu1... | |
| ENST00000679410.1:n.[609C>T;656C>A;658G>T;670C>G;678T>C] | ||
| ENST00000679480.1:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000506201.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000679535.1:n.[786C>T;833C>A;835G>T;847C>G;855T>C] | ||
| ENST00000679778.1:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000505235.1:p.[Thr162Met;Leu178Thr;Gly182=;Leu185Pro] | |
| ENST00000680227.1:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000506253.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000680727.1:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000505193.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000681052.1:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000505060.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000681092.1:c.[*289C>T;*336C>A;*338G>T;*350C>G;*358T>C] | ENSP00000506720.1:n.[*289C>T;*336C>A;*338G>T;*350C>G;*358T>C]... | |
| ENST00000681842.1:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000506126.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000331925.6:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000331514.2:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000571691.5:c.[458C>T;505C>A;507G>T;519C>G;527T>C] | ENSP00000461407.1:p.[Thr153Met;Leu169Met;Leu169=;Gly173=;Leu1... | |
| ENST00000572105.6:c.[526C>T;573C>A;575G>T;587C>G;595T>C] | ENSP00000462823.1:p.[Arg176Trp;Val191=;Trp192Leu;Ala196Gly;Te... | |
| ENST00000573283.5:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000458435.1:p.[Thr162Met;Leu178Asn;Gly182=;Leu185Pro] | |
| ENST00000574671.5:n.[344C>T;391C>A;393G>T;405C>G;413T>C] | ||
| ENST00000575087.5:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000459124.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000575659.5:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000459119.1:p.[Thr162Met;Leu178Ser;Gly182=;Leu185Pro] | |
| ENST00000575842.5:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000458162.1:p.[Thr162Met;Leu178Ser;Gly182=;Leu185Pro] | |
| ENST00000575994.5:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000460464.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu1... | |
| ENST00000576209.5:n.[370C>T;417C>A;419G>T;431C>G;439T>C] | ||
| ENST00000576214.2:n.[683C>T;730C>A;732G>T;744C>G;752T>C] | ||
| ENST00000576544.5:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000461672.1:p.[Thr162Met;Leu178Ser;Gly182=;Leu185Pro] | |
| ENST00000576917.5:n.[538C>T;585C>A;587G>T;599C>G;607T>C] | ||
| ENST00000615544.4:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | ENSP00000477968.1:p.[Thr162Met;Leu178Ser;Gly182=;Leu185Pro] | |
| NM_001199954.1:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | NP_001186883.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu185P... | |
| NM_001614.3:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | NP_001605.1:p.[Thr162Met;Leu178Ser;Gly182=;Leu185Pro] | |
| NR_037688.1:n.[624C>T;671C>A;673G>T;685C>G;693T>C] | ||
| NM_001199954.2:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | NP_001186883.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu185P... | |
| NM_001614.4:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | NP_001605.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu185Pro]... | |
| NR_037688.2:n.[557C>T;604C>A;606G>T;618C>G;626T>C] | ||
| NM_001614.5:c.[485C>T;532C>A;534G>T;546C>G;554T>C] MANE Select | NP_001605.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu185Pro]... | |
| NR_037688.3:n.[557C>T;604C>A;606G>T;618C>G;626T>C] | ||
| NM_001199954.3:c.[485C>T;532C>A;534G>T;546C>G;554T>C] | NP_001186883.1:p.[Thr162Met;Leu178Met;Leu178=;Gly182=;Leu185P... |