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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511537A>C;81511547G>C;81511549G>C;81511554C>T;81511578C>G] , CM000679.2:g.[81511537A>C;81511547G>C;81511549G>C;81511554C>T;81511578C>G] | GRCh38 |
| NC_000017.10:g.[79478563A>C;79478573G>C;79478575G>C;79478580C>T;79478604C>G] , CM000679.1:g.[79478563A>C;79478573G>C;79478575G>C;79478580C>T;79478604C>G] | GRCh37 |
| NC_000017.9:g.[77093158A>C;77093168G>C;77093170G>C;77093175C>T;77093199C>G] | NCBI36 |
| NG_011433.1:g.[6224G>C;6248G>A;6253C>G;6255C>G;6265T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000466346.2:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000571691.6:c.[340G>C;364G>A;369C>G;371C>G;381T>G] | ENSP00000461407.2:p.[Ala114Pro;Gly122Arg;Arg123=;Thr124Ser;Il... | |
| ENST00000571721.6:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000460660.2:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000572105.7:c.[453G>C;477G>A;482C>G;484C>G;494T>G] | ENSP00000462823.1:p.[Arg151Ser;Leu159=;Ala161Gly;Pro162Ala;Le... | |
| ENST00000573283.7:c.[412G>C;436G>A;441C>G;443C>G;453T>G] MANE Select | ENSP00000458435.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000574671.6:n.[812G>C;836G>A;841C>G;843C>G;853T>G] | ||
| ENST00000575659.6:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000459119.2:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000575994.6:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000460464.2:p.[Ala138Pro;Gly146Arg;Thr148Arg;Ile151Met]... | |
| ENST00000576214.3:n.[713G>C;737G>A;742C>G;744C>G;754T>G] | ||
| ENST00000576544.6:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000461672.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000615544.5:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000477968.1:p.[Ala138Pro;Gly146Arg;Thr148Ser;Ile151Met]... | |
| ENST00000644774.2:c.[385G>C;409G>A;414C>G;416C>G;426T>G] | ENSP00000493648.2:p.[Ala129Pro;Gly137Arg;Arg138=;Thr139Ser;Il... | |
| ENST00000679410.1:n.[536G>C;560G>A;565C>G;567C>G;577T>G] | ||
| ENST00000679480.1:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000506201.1:p.[Ala138Pro;Gly146Arg;Thr148Gly;Ile151Met]... | |
| ENST00000679535.1:n.[713G>C;737G>A;742C>G;744C>G;754T>G] | ||
| ENST00000679778.1:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000505235.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000680227.1:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000506253.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000680727.1:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000505193.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000681052.1:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000505060.1:p.[Ala138Pro;Gly146Arg;Thr148Gly;Ile151Met]... | |
| ENST00000681092.1:c.[*216G>C;*240G>A;*245C>G;*247C>G;*257T>G] | ENSP00000506720.1:n.[*216G>C;*240G>A;*245C>G;*247C>G;*257T>G]... | |
| ENST00000681842.1:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000506126.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000331925.6:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000331514.2:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000570382.1:c.[340G>C;364G>A;369C>G;371C>G;381T>G] | ENSP00000466346.1:p.[Ala114Pro;Gly122Arg;Arg123=;Thr124Ser;Il... | |
| ENST00000571691.5:c.[385G>C;409G>A;414C>G;416C>G;426T>G] | ENSP00000461407.1:p.[Ala129Pro;Gly137Arg;Arg138=;Thr139Ser;Il... | |
| ENST00000571721.5:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000460660.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000572105.6:c.[453G>C;477G>A;482C>G;484C>G;494T>G] | ENSP00000462823.1:p.[Arg151Ser;Leu159=;Ala161_Pro162delinsGly... | |
| ENST00000573283.5:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000458435.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000574671.5:n.[271G>C;295G>A;300C>G;302C>G;312T>G] | ||
| ENST00000575087.5:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000459124.1:p.[Ala138Pro;Gly146Arg;Thr148Gly;Ile151Met]... | |
| ENST00000575659.5:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000459119.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000575842.5:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000458162.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000575994.5:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000460464.1:p.[Ala138Pro;Gly146Arg;Thr148Arg;Ile151Met]... | |
| ENST00000576209.5:n.[297G>C;321G>A;326C>G;328C>G;338T>G] | ||
| ENST00000576214.2:n.[610G>C;634G>A;639C>G;641C>G;651T>G] | ||
| ENST00000576544.5:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000461672.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| ENST00000576917.5:n.[465G>C;489G>A;494C>G;496C>G;506T>G] | ||
| ENST00000615544.4:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | ENSP00000477968.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Il... | |
| NM_001199954.1:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | NP_001186883.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Ile15... | |
| NM_001614.3:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | NP_001605.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Ile151Me... | |
| NR_037688.1:n.[551G>C;575G>A;580C>G;582C>G;592T>G] | ||
| NM_001199954.2:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | NP_001186883.1:p.[Ala138Pro;Gly146Arg;Thr148Gly;Ile151Met] | |
| NM_001614.4:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | NP_001605.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Ile151Me... | |
| NR_037688.2:n.[484G>C;508G>A;513C>G;515C>G;525T>G] | ||
| NM_001614.5:c.[412G>C;436G>A;441C>G;443C>G;453T>G] MANE Select | NP_001605.1:p.[Ala138Pro;Gly146Arg;Arg147=;Thr148Ser;Ile151Me... | |
| NR_037688.3:n.[484G>C;508G>A;513C>G;515C>G;525T>G] | ||
| NM_001199954.3:c.[412G>C;436G>A;441C>G;443C>G;453T>G] | NP_001186883.1:p.[Ala138Pro;Gly146Arg;Thr148Gly;Ile151Met] |