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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511515C>A;81511564G>C;81511566G>A;81511587C>G] , CM000679.2:g.[81511515C>A;81511564G>C;81511566G>A;81511587C>G] | GRCh38 |
| NC_000017.10:g.[79478541C>A;79478590G>C;79478592G>A;79478613C>G] , CM000679.1:g.[79478541C>A;79478590G>C;79478592G>A;79478613C>G] | GRCh37 |
| NC_000017.9:g.[77093136C>A;77093185G>C;77093187G>A;77093208C>G] | NCBI36 |
| NG_011433.1:g.[6215G>C;6236C>T;6238C>G;6287G>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000466346.2:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000571691.6:c.[340-9G>C;352C>T;354C>G;403G>T] | ENSP00000461407.2:p.[Leu118Phe;Leu118=;Val135Phe] | |
| ENST00000571721.6:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000460660.2:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000572105.7:c.[444G>C;465C>T;467C>G;516G>T] | ENSP00000462823.1:p.[Trp148Cys;Pro155=;Ser156Cys;Gly172=] | |
| ENST00000573283.7:c.[403G>C;424C>T;426C>G;475G>T] MANE Select | ENSP00000458435.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000574671.6:n.[803G>C;824C>T;826C>G;875G>T] | ||
| ENST00000575659.6:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000459119.2:p.[Ala135Pro;Leu142Trp;Val159Phe] | |
| ENST00000575994.6:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000460464.2:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000576214.3:n.[704G>C;725C>T;727C>G;776G>T] | ||
| ENST00000576544.6:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000461672.1:p.[Ala135Pro;Leu142Ter] | |
| ENST00000615544.5:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000477968.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000644774.2:c.[376G>C;397C>T;399C>G;448G>T] | ENSP00000493648.2:p.[Ala126Pro;Leu133Phe;Leu133=;Val150Phe] | |
| ENST00000679410.1:n.[527G>C;548C>T;550C>G;599G>T] | ||
| ENST00000679480.1:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000506201.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000679535.1:n.[704G>C;725C>T;727C>G;776G>T] | ||
| ENST00000679778.1:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000505235.1:p.[Ala135Pro;Leu142Trp;Val159Phe] | |
| ENST00000680227.1:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000506253.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000680727.1:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000505193.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000681052.1:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000505060.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000681092.1:c.[*207G>C;*228C>T;*230C>G;*279G>T] | ENSP00000506720.1:n.[*207G>C;*228C>T;*230C>G;*279G>T] | |
| ENST00000681842.1:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000506126.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000331925.6:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000331514.2:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000571691.5:c.[376G>C;397C>T;399C>G;448G>T] | ENSP00000461407.1:p.[Ala126Pro;Leu133Phe;Leu133=;Val150Phe] | |
| ENST00000571721.5:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000460660.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000572105.6:c.[444G>C;465C>T;467C>G;516G>T] | ENSP00000462823.1:p.[Trp148Cys;Pro155=;Ser156Cys;Gly172=] | |
| ENST00000573283.5:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000458435.1:p.[Ala135Pro;Leu142Trp;Val159Phe] | |
| ENST00000574671.5:n.[262G>C;283C>T;285C>G;334G>T] | ||
| ENST00000575087.5:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000459124.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000575659.5:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000459119.1:p.[Ala135Pro;Leu142Trp;Val159Phe] | |
| ENST00000575842.5:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000458162.1:p.[Ala135Pro;Leu142Ser;Val159Phe] | |
| ENST00000575994.5:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000460464.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| ENST00000576209.5:n.[288G>C;309C>T;311C>G;360G>T] | ||
| ENST00000576214.2:n.[601G>C;622C>T;624C>G;673G>T] | ||
| ENST00000576544.5:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000461672.1:p.[Ala135Pro;Leu142Ter] | |
| ENST00000576917.5:n.[456G>C;477C>T;479C>G;528G>T] | ||
| ENST00000615544.4:c.[403G>C;424C>T;426C>G;475G>T] | ENSP00000477968.1:p.[Ala135Pro;Leu142Ter] | |
| NM_001199954.1:c.[403G>C;424C>T;426C>G;475G>T] | NP_001186883.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| NM_001614.3:c.[403G>C;424C>T;426C>G;475G>T] | NP_001605.1:p.[Ala135Pro;Leu142Ter] | |
| NR_037688.1:n.[542G>C;563C>T;565C>G;614G>T] | ||
| NM_001199954.2:c.[403G>C;424C>T;426C>G;475G>T] | NP_001186883.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| NM_001614.4:c.[403G>C;424C>T;426C>G;475G>T] | NP_001605.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| NR_037688.2:n.[475G>C;496C>T;498C>G;547G>T] | ||
| NM_001614.5:c.[403G>C;424C>T;426C>G;475G>T] MANE Select | NP_001605.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] | |
| NR_037688.3:n.[475G>C;496C>T;498C>G;547G>T] | ||
| NM_001199954.3:c.[403G>C;424C>T;426C>G;475G>T] | NP_001186883.1:p.[Ala135Pro;Leu142Phe;Leu142=;Val159Phe] |