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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511495G>C;81511502A>T;81511504C>T;81511526G>A;81511537A>C] , CM000679.2:g.[81511495G>C;81511502A>T;81511504C>T;81511526G>A;81511537A>C] | GRCh38 |
| NC_000017.10:g.[79478521G>C;79478528A>T;79478530C>T;79478552G>A;79478563A>C] , CM000679.1:g.[79478521G>C;79478528A>T;79478530C>T;79478552G>A;79478563A>C] | GRCh37 |
| NC_000017.9:g.[77093116G>C;77093123A>T;77093125C>T;77093147G>A;77093158A>C] | NCBI36 |
| NG_011433.1:g.[6265T>G;6276C>T;6298G>A;6300T>A;6307C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000466346.2:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000571691.6:c.[381T>G;392C>T;414G>A;416T>A;423C>G] | ENSP00000461407.2:p.[Ile127Met;Ser131Phe;Thr138=;Val139Glu;Il... | |
| ENST00000571721.6:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000460660.2:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000572105.7:c.[494T>G;505C>T;527G>A;529T>A;536C>G] | ENSP00000462823.1:p.[Leu165Trp;Leu169=;Arg176Gln;Cys177Ser;Se... | |
| ENST00000573283.7:c.[453T>G;464C>T;486G>A;488T>A;495C>G] MANE Select | ENSP00000458435.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000574671.6:n.[853T>G;864C>T;886G>A;888T>A;895C>G] | ||
| ENST00000575659.6:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000459119.2:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000575994.6:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000460464.2:p.[Ile151Met;Ser155Phe;Val163Lys;Ile165Met]... | |
| ENST00000576214.3:n.[754T>G;765C>T;787G>A;789T>A;796C>G] | ||
| ENST00000576544.6:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000461672.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000615544.5:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000477968.1:p.[Ile151Met;Ser155Phe;Val163Gln;Ile165Met]... | |
| ENST00000644774.2:c.[426T>G;437C>T;459G>A;461T>A;468C>G] | ENSP00000493648.2:p.[Ile142Met;Ser146Phe;Thr153=;Val154Glu;Il... | |
| ENST00000679410.1:n.[577T>G;588C>T;610G>A;612T>A;619C>G] | ||
| ENST00000679480.1:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000506201.1:p.[Ile151Met;Ser155Phe;Val163Lys;Ile165Met]... | |
| ENST00000679535.1:n.[754T>G;765C>T;787G>A;789T>A;796C>G] | ||
| ENST00000679778.1:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000505235.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000680227.1:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000506253.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000680727.1:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000505193.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000681052.1:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000505060.1:p.[Ile151Met;Ser155Phe;Val163Gln;Ile165Met]... | |
| ENST00000681092.1:c.[*257T>G;*268C>T;*290G>A;*292T>A;*299C>G] | ENSP00000506720.1:n.[*257T>G;*268C>T;*290G>A;*292T>A;*299C>G]... | |
| ENST00000681842.1:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000506126.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000331925.6:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000331514.2:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000571691.5:c.[426T>G;437C>T;459G>A;461T>A;468C>G] | ENSP00000461407.1:p.[Ile142Met;Ser146Phe;Thr153=;Val154Glu;Il... | |
| ENST00000572105.6:c.[494T>G;505C>T;527G>A;529T>A;536C>G] | ENSP00000462823.1:p.[Leu165Trp;Leu169=;Arg176_Cys177delinsHis... | |
| ENST00000573283.5:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000458435.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000574671.5:n.[312T>G;323C>T;345G>A;347T>A;354C>G] | ||
| ENST00000575087.5:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000459124.1:p.[Ile151Met;Ser155Phe;Val163Gln;Ile165Met]... | |
| ENST00000575659.5:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000459119.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000575842.5:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000458162.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000575994.5:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000460464.1:p.[Ile151Met;Ser155Phe;Val163Lys;Ile165Met]... | |
| ENST00000576209.5:n.[338T>G;349C>T;371G>A;373T>A;380C>G] | ||
| ENST00000576214.2:n.[651T>G;662C>T;684G>A;686T>A;693C>G] | ||
| ENST00000576544.5:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000461672.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| ENST00000576917.5:n.[506T>G;517C>T;539G>A;541T>A;548C>G] | ||
| ENST00000615544.4:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | ENSP00000477968.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Il... | |
| NM_001199954.1:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | NP_001186883.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Ile16... | |
| NM_001614.3:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | NP_001605.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Ile165Me... | |
| NR_037688.1:n.[592T>G;603C>T;625G>A;627T>A;634C>G] | ||
| NM_001199954.2:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | NP_001186883.1:p.[Ile151Met;Ser155Phe;Val163Gln;Ile165Met] | |
| NM_001614.4:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | NP_001605.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Ile165Me... | |
| NR_037688.2:n.[525T>G;536C>T;558G>A;560T>A;567C>G] | ||
| NM_001614.5:c.[453T>G;464C>T;486G>A;488T>A;495C>G] MANE Select | NP_001605.1:p.[Ile151Met;Ser155Phe;Thr162=;Val163Glu;Ile165Me... | |
| NR_037688.3:n.[525T>G;536C>T;558G>A;560T>A;567C>G] | ||
| NM_001199954.3:c.[453T>G;464C>T;486G>A;488T>A;495C>G] | NP_001186883.1:p.[Ile151Met;Ser155Phe;Val163Gln;Ile165Met] |