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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511465G>C;81511479G>C;81511507G>C] , CM000679.2:g.[81511465G>C;81511479G>C;81511507G>C] | GRCh38 |
| NC_000017.10:g.[79478491G>C;79478505G>C;79478533G>C] , CM000679.1:g.[79478491G>C;79478505G>C;79478533G>C] | GRCh37 |
| NC_000017.9:g.[77093086G>C;77093100G>C;77093128G>C] | NCBI36 |
| NG_011433.1:g.[6295C>G;6323C>G;6337C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[483C>G;511C>G;525C>G] | ENSP00000466346.2:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000571691.6:c.[411C>G;439C>G;453C>G] | ENSP00000461407.2:p.[His137Gln;Leu147Val;Ile151Met] | |
| ENST00000571721.6:c.[483C>G;511C>G;525C>G] | ENSP00000460660.2:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000572105.7:c.[524C>G;552C>G;566C>G] | ENSP00000462823.1:p.[Thr175Arg;Pro184=;Ser189Cys] | |
| ENST00000573283.7:c.[483C>G;511C>G;525C>G] MANE Select | ENSP00000458435.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000574671.6:n.[883C>G;911C>G;925C>G] | ||
| ENST00000575659.6:c.[483C>G;511C>G;525C>G] | ENSP00000459119.2:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000575994.6:c.[483C>G;511C>G;525C>G] | ENSP00000460464.2:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000576214.3:n.[784C>G;812C>G;826C>G] | ||
| ENST00000576544.6:c.[483C>G;511C>G;525C>G] | ENSP00000461672.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000615544.5:c.[483C>G;511C>G;525C>G] | ENSP00000477968.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000644774.2:c.[456C>G;484C>G;498C>G] | ENSP00000493648.2:p.[His152Gln;Leu162Val;Ile166Met] | |
| ENST00000679410.1:n.[607C>G;635C>G;649C>G] | ||
| ENST00000679480.1:c.[483C>G;511C>G;525C>G] | ENSP00000506201.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000679535.1:n.[784C>G;812C>G;826C>G] | ||
| ENST00000679778.1:c.[483C>G;511C>G;525C>G] | ENSP00000505235.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000680227.1:c.[483C>G;511C>G;525C>G] | ENSP00000506253.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000680727.1:c.[483C>G;511C>G;525C>G] | ENSP00000505193.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000681052.1:c.[483C>G;511C>G;525C>G] | ENSP00000505060.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000681092.1:c.[*287C>G;*315C>G;*329C>G] | ENSP00000506720.1:n.[*287C>G;*315C>G;*329C>G] | |
| ENST00000681842.1:c.[483C>G;511C>G;525C>G] | ENSP00000506126.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000331925.6:c.[483C>G;511C>G;525C>G] | ENSP00000331514.2:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000571691.5:c.[456C>G;484C>G;498C>G] | ENSP00000461407.1:p.[His152Gln;Leu162Val;Ile166Met] | |
| ENST00000572105.6:c.[524C>G;552C>G;566C>G] | ENSP00000462823.1:p.[Thr175Arg;Pro184=;Ser189Cys] | |
| ENST00000573283.5:c.[483C>G;511C>G;525C>G] | ENSP00000458435.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000574671.5:n.[342C>G;370C>G;384C>G] | ||
| ENST00000575087.5:c.[483C>G;511C>G;525C>G] | ENSP00000459124.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000575659.5:c.[483C>G;511C>G;525C>G] | ENSP00000459119.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000575842.5:c.[483C>G;511C>G;525C>G] | ENSP00000458162.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000575994.5:c.[483C>G;511C>G;525C>G] | ENSP00000460464.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000576209.5:n.[368C>G;396C>G;410C>G] | ||
| ENST00000576214.2:n.[681C>G;709C>G;723C>G] | ||
| ENST00000576544.5:c.[483C>G;511C>G;525C>G] | ENSP00000461672.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| ENST00000576917.5:n.[536C>G;564C>G;578C>G] | ||
| ENST00000615544.4:c.[483C>G;511C>G;525C>G] | ENSP00000477968.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| NM_001199954.1:c.[483C>G;511C>G;525C>G] | NP_001186883.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| NM_001614.3:c.[483C>G;511C>G;525C>G] | NP_001605.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| NR_037688.1:n.[622C>G;650C>G;664C>G] | ||
| NM_001199954.2:c.[483C>G;511C>G;525C>G] | NP_001186883.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| NM_001614.4:c.[483C>G;511C>G;525C>G] | NP_001605.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| NR_037688.2:n.[555C>G;583C>G;597C>G] | ||
| NM_001614.5:c.[483C>G;511C>G;525C>G] MANE Select | NP_001605.1:p.[His161Gln;Leu171Val;Ile175Met] | |
| NR_037688.3:n.[555C>G;583C>G;597C>G] | ||
| NM_001199954.3:c.[483C>G;511C>G;525C>G] | NP_001186883.1:p.[His161Gln;Leu171Val;Ile175Met] |