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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511433G>C;81511436A>T;81511464G>C;81511477G>T;81511479G>A;81511484T>C] , CM000679.2:g.[81511433G>C;81511436A>T;81511464G>C;81511477G>T;81511479G>A;81511484T>C] | GRCh38 |
| NC_000017.10:g.[79478459G>C;79478462A>T;79478490G>C;79478503G>T;79478505G>A;79478510T>C] , CM000679.1:g.[79478459G>C;79478462A>T;79478490G>C;79478503G>T;79478505G>A;79478510T>C] | GRCh37 |
| NC_000017.9:g.[77093054G>C;77093057A>T;77093085G>C;77093098G>T;77093100G>A;77093105T>C] | NCBI36 |
| NG_011433.1:g.[6318A>G;6323C>T;6325C>A;6338C>G;6366T>A;6369C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000466346.2:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000571691.6:c.[434A>G;439C>T;441C>A;454C>G;482T>A;485C>G] | ENSP00000461407.2:p.[Tyr145Cys;Leu147Phe;Leu147=;Leu152Val;Le... | |
| ENST00000571721.6:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000460660.2:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000572105.7:c.[547A>G;552C>T;554C>A;567C>G;595T>A;*1C>G] | ENSP00000462823.1:[p.Thr183Ala;p.Pro184=;p.Ser185Tyr;p.Ser189... | |
| ENST00000573283.7:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] MANE Select | ENSP00000458435.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000574671.6:n.[906A>G;911C>T;913C>A;926C>G;954T>A;957C>G] | ||
| ENST00000575659.6:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000459119.2:p.[Tyr169Cys;Leu171=;Leu176Val;Leu185Gln;Th... | |
| ENST00000575994.6:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000460464.2:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000576214.3:n.[807A>G;812C>T;814C>A;827C>G;855T>A;858C>G] | ||
| ENST00000576544.6:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000461672.1:p.[Tyr169Cys;Leu171Ser;Leu176Val;Leu185Gln;... | |
| ENST00000615544.5:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000477968.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000644774.2:c.[479A>G;484C>T;486C>A;499C>G;527T>A;530C>G] | ENSP00000493648.2:p.[Tyr160Cys;Leu162Phe;Leu162=;Leu167Val;Le... | |
| ENST00000679410.1:n.[630A>G;635C>T;637C>A;650C>G;678T>A;681C>G] | ||
| ENST00000679480.1:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000506201.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000679535.1:n.[807A>G;812C>T;814C>A;827C>G;855T>A;858C>G] | ||
| ENST00000679778.1:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000505235.1:p.[Tyr169Cys;Leu171Ter] | |
| ENST00000680227.1:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000506253.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000680727.1:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000505193.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000681052.1:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000505060.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000681092.1:c.[*310A>G;*315C>T;*317C>A;*330C>G;*358T>A;*361C>G] | ENSP00000506720.1:n.[*310A>G;*315C>T;*317C>A;*330C>G;*358T>A;... | |
| ENST00000681842.1:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000506126.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000331925.6:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000331514.2:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000571691.5:c.[479A>G;484C>T;486C>A;499C>G;527T>A;530C>G] | ENSP00000461407.1:p.[Tyr160Cys;Leu162Phe;Leu162=;Leu167Val;Le... | |
| ENST00000572105.6:c.[547A>G;552C>T;554C>A;567C>G;595T>A;*1C>G] | ENSP00000462823.1:[p.Thr183Ala;p.Pro184=;p.Ser185Tyr;p.Ser189... | |
| ENST00000573283.5:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000458435.1:p.[Tyr169Cys;Leu171Ter] | |
| ENST00000574671.5:n.[365A>G;370C>T;372C>A;385C>G;413T>A;416C>G] | ||
| ENST00000575087.5:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000459124.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000575659.5:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000459119.1:p.[Tyr169Cys;Leu171=;Leu176Val;Leu185Gln;Th... | |
| ENST00000575842.5:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000458162.1:p.[Tyr169Cys;Leu171Ser;Leu176Val;Leu185Gln;... | |
| ENST00000575994.5:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000460464.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Le... | |
| ENST00000576209.5:n.[391A>G;396C>T;398C>A;411C>G;439T>A;442C>G] | ||
| ENST00000576214.2:n.[704A>G;709C>T;711C>A;724C>G;752T>A;755C>G] | ||
| ENST00000576544.5:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000461672.1:p.[Tyr169Cys;Leu171Ser;Leu176Val;Leu185Gln;... | |
| ENST00000576917.5:n.[559A>G;564C>T;566C>A;579C>G;607T>A;610C>G] | ||
| ENST00000615544.4:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | ENSP00000477968.1:p.[Tyr169Cys;Leu171Ser;Leu176Val;Leu185Gln;... | |
| NM_001199954.1:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | NP_001186883.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Leu18... | |
| NM_001614.3:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | NP_001605.1:p.[Tyr169Cys;Leu171Ser;Leu176Val;Leu185Gln;Thr186... | |
| NR_037688.1:n.[645A>G;650C>T;652C>A;665C>G;693T>A;696C>G] | ||
| NM_001199954.2:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | NP_001186883.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Leu18... | |
| NM_001614.4:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | NP_001605.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Leu185Gl... | |
| NR_037688.2:n.[578A>G;583C>T;585C>A;598C>G;626T>A;629C>G] | ||
| NM_001614.5:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] MANE Select | NP_001605.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Leu185Gl... | |
| NR_037688.3:n.[578A>G;583C>T;585C>A;598C>G;626T>A;629C>G] | ||
| NM_001199954.3:c.[506A>G;511C>T;513C>A;526C>G;554T>A;557C>G] | NP_001186883.1:p.[Tyr169Cys;Leu171Phe;Leu171=;Leu176Val;Leu18... |