This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511519G>A;81511539T>A;81511550C>G] , CM000679.2:g.[81511519G>A;81511539T>A;81511550C>G] | GRCh38 |
| NC_000017.10:g.[79478545G>A;79478565T>A;79478576C>G] , CM000679.1:g.[79478545G>A;79478565T>A;79478576C>G] | GRCh37 |
| NC_000017.9:g.[77093140G>A;77093160T>A;77093171C>G] | NCBI36 |
| NG_011433.1:g.[6252G>C;6263A>T;6283C>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[440G>C;451A>T;471C>T] | ENSP00000466346.2:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000571691.6:c.[368G>C;379A>T;399C>T] | ENSP00000461407.2:p.[Arg123Pro;Ile127Phe;Asp133=] | |
| ENST00000571721.6:c.[440G>C;451A>T;471C>T] | ENSP00000460660.2:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000572105.7:c.[481G>C;492A>T;512C>T] | ENSP00000462823.1:p.[Ala161Pro;Ala164=;Thr171Met] | |
| ENST00000573283.7:c.[440G>C;451A>T;471C>T] MANE Select | ENSP00000458435.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000574671.6:n.[840G>C;851A>T;871C>T] | ||
| ENST00000575659.6:c.[440G>C;451A>T;471C>T] | ENSP00000459119.2:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000575994.6:c.[440G>C;451A>T;471C>T] | ENSP00000460464.2:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000576214.3:n.[741G>C;752A>T;772C>T] | ||
| ENST00000576544.6:c.[440G>C;451A>T;471C>T] | ENSP00000461672.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000615544.5:c.[440G>C;451A>T;471C>T] | ENSP00000477968.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000644774.2:c.[413G>C;424A>T;444C>T] | ENSP00000493648.2:p.[Arg138Pro;Ile142Phe;Asp148=] | |
| ENST00000679410.1:n.[564G>C;575A>T;595C>T] | ||
| ENST00000679480.1:c.[440G>C;451A>T;471C>T] | ENSP00000506201.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000679535.1:n.[741G>C;752A>T;772C>T] | ||
| ENST00000679778.1:c.[440G>C;451A>T;471C>T] | ENSP00000505235.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000680227.1:c.[440G>C;451A>T;471C>T] | ENSP00000506253.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000680727.1:c.[440G>C;451A>T;471C>T] | ENSP00000505193.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000681052.1:c.[440G>C;451A>T;471C>T] | ENSP00000505060.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000681092.1:c.[*244G>C;*255A>T;*275C>T] | ENSP00000506720.1:n.[*244G>C;*255A>T;*275C>T] | |
| ENST00000681842.1:c.[440G>C;451A>T;471C>T] | ENSP00000506126.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000331925.6:c.[440G>C;451A>T;471C>T] | ENSP00000331514.2:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000570382.1:c.[368G>C;379A>T;399C>T] | ENSP00000466346.1:p.[Arg123Pro;Ile127Phe;Asp133=] | |
| ENST00000571691.5:c.[413G>C;424A>T;444C>T] | ENSP00000461407.1:p.[Arg138Pro;Ile142Phe;Asp148=] | |
| ENST00000571721.5:c.[440G>C;451A>T;471C>T] | ENSP00000460660.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000572105.6:c.[481G>C;492A>T;512C>T] | ENSP00000462823.1:p.[Ala161Pro;Ala164=;Thr171Met] | |
| ENST00000573283.5:c.[440G>C;451A>T;471C>T] | ENSP00000458435.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000574671.5:n.[299G>C;310A>T;330C>T] | ||
| ENST00000575087.5:c.[440G>C;451A>T;471C>T] | ENSP00000459124.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000575659.5:c.[440G>C;451A>T;471C>T] | ENSP00000459119.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000575842.5:c.[440G>C;451A>T;471C>T] | ENSP00000458162.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000575994.5:c.[440G>C;451A>T;471C>T] | ENSP00000460464.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000576209.5:n.[325G>C;336A>T;356C>T] | ||
| ENST00000576214.2:n.[638G>C;649A>T;669C>T] | ||
| ENST00000576544.5:c.[440G>C;451A>T;471C>T] | ENSP00000461672.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| ENST00000576917.5:n.[493G>C;504A>T;524C>T] | ||
| ENST00000615544.4:c.[440G>C;451A>T;471C>T] | ENSP00000477968.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| NM_001199954.1:c.[440G>C;451A>T;471C>T] | NP_001186883.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| NM_001614.3:c.[440G>C;451A>T;471C>T] | NP_001605.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| NR_037688.1:n.[579G>C;590A>T;610C>T] | ||
| NM_001199954.2:c.[440G>C;451A>T;471C>T] | NP_001186883.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| NM_001614.4:c.[440G>C;451A>T;471C>T] | NP_001605.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| NR_037688.2:n.[512G>C;523A>T;543C>T] | ||
| NM_001614.5:c.[440G>C;451A>T;471C>T] MANE Select | NP_001605.1:p.[Arg147Pro;Ile151Phe;Asp157=] | |
| NR_037688.3:n.[512G>C;523A>T;543C>T] | ||
| NM_001199954.3:c.[440G>C;451A>T;471C>T] | NP_001186883.1:p.[Arg147Pro;Ile151Phe;Asp157=] |