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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511511G>C;81511544G>C;81511561G>A;81511563A>T;81511568G>T] , CM000679.2:g.[81511511G>C;81511544G>C;81511561G>A;81511563A>T;81511568G>T] | GRCh38 |
| NC_000017.10:g.[79478537G>C;79478570G>C;79478587G>A;79478589A>T;79478594G>T] , CM000679.1:g.[79478537G>C;79478570G>C;79478587G>A;79478589A>T;79478594G>T] | GRCh37 |
| NC_000017.9:g.[77093132G>C;77093165G>C;77093182G>A;77093184A>T;77093189G>T] | NCBI36 |
| NG_011433.1:g.[6234C>A;6239T>A;6241C>T;6258C>G;6291C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000466346.2:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000571691.6:c.[350C>A;355T>A;357C>T;374C>G;407C>G] | ENSP00000461407.2:p.[Ser117Tyr;Tyr119Asn;Tyr119=;Thr125Ser;Th... | |
| ENST00000571721.6:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000460660.2:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000572105.7:c.[463C>A;468T>A;470C>T;487C>G;520C>G] | ENSP00000462823.1:p.[Pro155Thr;Ser156=;Thr157Met;Leu163Val;Pr... | |
| ENST00000573283.7:c.[422C>A;427T>A;429C>T;446C>G;479C>G] MANE Select | ENSP00000458435.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000574671.6:n.[822C>A;827T>A;829C>T;846C>G;879C>G] | ||
| ENST00000575659.6:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000459119.2:p.[Ser141Tyr;Tyr143Ser;Thr149Ser;Thr160Ser]... | |
| ENST00000575994.6:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000460464.2:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000576214.3:n.[723C>A;728T>A;730C>T;747C>G;780C>G] | ||
| ENST00000576544.6:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000461672.1:p.[Ser141Tyr;Tyr143Ser;Thr149Ser;Thr160Ser]... | |
| ENST00000615544.5:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000477968.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000644774.2:c.[395C>A;400T>A;402C>T;419C>G;452C>G] | ENSP00000493648.2:p.[Ser132Tyr;Tyr134Asn;Tyr134=;Thr140Ser;Th... | |
| ENST00000679410.1:n.[546C>A;551T>A;553C>T;570C>G;603C>G] | ||
| ENST00000679480.1:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000506201.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000679535.1:n.[723C>A;728T>A;730C>T;747C>G;780C>G] | ||
| ENST00000679778.1:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000505235.1:p.[Ser141Tyr;Tyr143Thr;Thr149Ser;Thr160Ser]... | |
| ENST00000680227.1:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000506253.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000680727.1:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000505193.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000681052.1:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000505060.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000681092.1:c.[*226C>A;*231T>A;*233C>T;*250C>G;*283C>G] | ENSP00000506720.1:n.[*226C>A;*231T>A;*233C>T;*250C>G;*283C>G]... | |
| ENST00000681842.1:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000506126.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000331925.6:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000331514.2:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000571691.5:c.[395C>A;400T>A;402C>T;419C>G;452C>G] | ENSP00000461407.1:p.[Ser132Tyr;Tyr134Asn;Tyr134=;Thr140Ser;Th... | |
| ENST00000571721.5:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000460660.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000572105.6:c.[463C>A;468T>A;470C>T;487C>G;520C>G] | ENSP00000462823.1:p.[Pro155Thr;Ser156=;Thr157Met;Leu163Val;Pr... | |
| ENST00000573283.5:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000458435.1:p.[Ser141Tyr;Tyr143Ile;Thr149Ser;Thr160Ser]... | |
| ENST00000574671.5:n.[281C>A;286T>A;288C>T;305C>G;338C>G] | ||
| ENST00000575087.5:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000459124.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000575659.5:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000459119.1:p.[Ser141Tyr;Tyr143Ser;Thr149Ser;Thr160Ser]... | |
| ENST00000575842.5:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000458162.1:p.[Ser141Tyr;Tyr143Ser;Thr149Ser;Thr160Ser]... | |
| ENST00000575994.5:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000460464.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Th... | |
| ENST00000576209.5:n.[307C>A;312T>A;314C>T;331C>G;364C>G] | ||
| ENST00000576214.2:n.[620C>A;625T>A;627C>T;644C>G;677C>G] | ||
| ENST00000576544.5:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000461672.1:p.[Ser141Tyr;Tyr143Ser;Thr149Ser;Thr160Ser]... | |
| ENST00000576917.5:n.[475C>A;480T>A;482C>T;499C>G;532C>G] | ||
| ENST00000615544.4:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | ENSP00000477968.1:p.[Ser141Tyr;Tyr143Ser;Thr149Ser;Thr160Ser]... | |
| NM_001199954.1:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | NP_001186883.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Thr16... | |
| NM_001614.3:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | NP_001605.1:p.[Ser141Tyr;Tyr143Ser;Thr149Ser;Thr160Ser] | |
| NR_037688.1:n.[561C>A;566T>A;568C>T;585C>G;618C>G] | ||
| NM_001199954.2:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | NP_001186883.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Thr16... | |
| NM_001614.4:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | NP_001605.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Thr160Se... | |
| NR_037688.2:n.[494C>A;499T>A;501C>T;518C>G;551C>G] | ||
| NM_001614.5:c.[422C>A;427T>A;429C>T;446C>G;479C>G] MANE Select | NP_001605.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Thr160Se... | |
| NR_037688.3:n.[494C>A;499T>A;501C>T;518C>G;551C>G] | ||
| NM_001199954.3:c.[422C>A;427T>A;429C>T;446C>G;479C>G] | NP_001186883.1:p.[Ser141Tyr;Tyr143Asn;Tyr143=;Thr149Ser;Thr16... |