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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511465G>C;81511502A>T;81511519G>A;81511527A>G;81511531C>A] , CM000679.2:g.[81511465G>C;81511502A>T;81511519G>A;81511527A>G;81511531C>A] | GRCh38 |
| NC_000017.10:g.[79478491G>C;79478528A>T;79478545G>A;79478553A>G;79478557C>A] , CM000679.1:g.[79478491G>C;79478528A>T;79478545G>A;79478553A>G;79478557C>A] | GRCh37 |
| NC_000017.9:g.[77093086G>C;77093123A>T;77093140G>A;77093148A>G;77093152C>A] | NCBI36 |
| NG_011433.1:g.[6271G>T;6275T>C;6283C>T;6300T>A;6337C>G] |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001614.5:c.[459G>T;463T>C;471C>T;488T>A;525C>G] MANE Select | NP_001605.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Ile175Me... |
| ENST00000573283.7:c.[459G>T;463T>C;471C>T;488T>A;525C>G] MANE Select | ENSP00000458435.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| NM_001199954.1:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | NP_001186883.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Ile17... |
| NM_001199954.2:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | NP_001186883.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Ile17... |
| NM_001199954.3:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | NP_001186883.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Ile17... |
| NM_001614.3:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | NP_001605.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Ile175Me... |
| NM_001614.4:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | NP_001605.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Ile175Me... |
| NR_037688.1:n.[598G>T;602T>C;610C>T;627T>A;664C>G] | |
| NR_037688.2:n.[531G>T;535T>C;543C>T;560T>A;597C>G] | |
| NR_037688.3:n.[531G>T;535T>C;543C>T;560T>A;597C>G] | |
| ENST00000331925.6:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000331514.2:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000570382.2:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000466346.2:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000571691.5:c.[432G>T;436T>C;444C>T;461T>A;498C>G] | ENSP00000461407.1:p.[Met144Ile;Ser146Pro;Asp148=;Val154Glu;Il... |
| ENST00000571691.6:c.[387G>T;391T>C;399C>T;416T>A;453C>G] | ENSP00000461407.2:p.[Met129Ile;Ser131Pro;Asp133=;Val139Glu;Il... |
| ENST00000571721.6:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000460660.2:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000572105.6:c.[500G>T;504T>C;512C>T;529T>A;566C>G] | ENSP00000462823.1:p.[Trp167Leu;Thr168=;Thr171Met;Cys177Ser;Se... |
| ENST00000572105.7:c.[500G>T;504T>C;512C>T;529T>A;566C>G] | ENSP00000462823.1:p.[Trp167Leu;Thr168=;Thr171Met;Cys177Ser;Se... |
| ENST00000573283.5:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000458435.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000574671.5:n.[318G>T;322T>C;330C>T;347T>A;384C>G] | |
| ENST00000574671.6:n.[859G>T;863T>C;871C>T;888T>A;925C>G] | |
| ENST00000575087.5:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000459124.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000575659.5:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000459119.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000575659.6:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000459119.2:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000575842.5:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000458162.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000575994.5:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000460464.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000575994.6:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000460464.2:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000576209.5:n.[344G>T;348T>C;356C>T;373T>A;410C>G] | |
| ENST00000576214.2:n.[657G>T;661T>C;669C>T;686T>A;723C>G] | |
| ENST00000576214.3:n.[760G>T;764T>C;772C>T;789T>A;826C>G] | |
| ENST00000576544.5:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000461672.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000576544.6:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000461672.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000576917.5:n.[512G>T;516T>C;524C>T;541T>A;578C>G] | |
| ENST00000615544.4:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000477968.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000615544.5:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000477968.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000644774.2:c.[432G>T;436T>C;444C>T;461T>A;498C>G] | ENSP00000493648.2:p.[Met144Ile;Ser146Pro;Asp148=;Val154Glu;Il... |
| ENST00000679410.1:n.[583G>T;587T>C;595C>T;612T>A;649C>G] | |
| ENST00000679480.1:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000506201.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000679535.1:n.[760G>T;764T>C;772C>T;789T>A;826C>G] | |
| ENST00000679778.1:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000505235.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000680227.1:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000506253.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000680727.1:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000505193.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000681052.1:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000505060.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |
| ENST00000681092.1:c.[*263G>T;*267T>C;*275C>T;*292T>A;*329C>G] | ENSP00000506720.1:n.[*263G>T;*267T>C;*275C>T;*292T>A;*329C>G]... |
| ENST00000681842.1:c.[459G>T;463T>C;471C>T;488T>A;525C>G] | ENSP00000506126.1:p.[Met153Ile;Ser155Pro;Asp157=;Val163Glu;Il... |