UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624302C= , CM000682.2:g.44624302C= | GRCh38 |
| NC_000020.10:g.43252943C= , CM000682.1:g.43252943C= | GRCh37 |
| NC_000020.9:g.42686357C= | NCBI36 |
| NG_007385.1:g.32434G= , LRG_16:g.32434G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.597G= | ||
| ENST00000536076.2:c.353G= | ENSP00000512234.1:p.Cys118= | |
| ENST00000536532.6:c.506G= | ENSP00000440946.1:p.Cys169= | |
| ENST00000537820.2:c.506G= | ENSP00000441818.1:p.Cys169= | |
| ENST00000539235.6:c.219-1224G= | ENSP00000446464.1:n.219-1224G= | |
| ENST00000695889.1:c.219-1372G= | ENSP00000512240.1:n.219-1372G= | |
| ENST00000695890.1:n.2309G= | ||
| ENST00000695891.1:c.219-1372G= | ENSP00000512241.1:n.219-1372G= | |
| ENST00000695927.1:c.584G= | ENSP00000512270.1:p.Cys195= | |
| ENST00000695949.1:c.503G= | ENSP00000512281.1:p.Cys168= | |
| ENST00000695957.1:c.390G= | ENSP00000512286.1:p.Val130= | |
| ENST00000695991.1:c.217-1372G= | ENSP00000512314.1:n.217-1372G= | |
| ENST00000695992.1:c.506G= | ENSP00000512315.1:p.Cys169= | |
| ENST00000695993.1:c.506G= | ENSP00000512316.1:p.Cys169= | |
| ENST00000695994.1:c.506G= | ENSP00000512317.1:p.Cys169= | |
| ENST00000695995.1:c.217-1224G= | ENSP00000512318.1:n.217-1224G= | |
| ENST00000695996.1:n.577G= | ||
| ENST00000695997.1:n.461G= | ||
| ENST00000696003.1:n.598G= | ||
| ENST00000696004.1:n.598G= | ||
| ENST00000696005.1:c.28G= | ||
| ENST00000696006.1:c.506G= | ENSP00000512325.1:p.Cys169= | |
| ENST00000696007.1:c.357G= | ENSP00000512326.1:p.Val119= | |
| ENST00000696008.1:n.1661G= | ||
| ENST00000696009.1:n.1856G= | ||
| ENST00000696017.1:c.503G= | ENSP00000512333.1:p.Cys168= | |
| ENST00000696034.1:c.506G= | ENSP00000512343.1:p.Cys169= | |
| ENST00000696035.1:n.616G= | ||
| ENST00000696036.1:n.1196G= | ||
| ENST00000696037.1:n.2183G= | ||
| ENST00000696038.1:c.*252G= | ENSP00000512344.1:n.*252G= | |
| ENST00000696039.1:n.794G= | ||
| ENST00000696058.1:c.506G= | ENSP00000512361.1:p.Cys169= | |
| ENST00000696059.1:c.*451G= | ENSP00000512362.1:n.*451G= | |
| ENST00000696060.1:c.506G= | ENSP00000512363.1:p.Cys169= | |
| ENST00000696061.1:c.503G= | ENSP00000512364.1:p.Cys168= | |
| ENST00000696062.1:c.569G= | ENSP00000512365.1:p.Cys190= | |
| ENST00000696063.1:c.581G= | ENSP00000512366.1:p.Cys194= | |
| ENST00000696064.1:c.353G= | ENSP00000512367.1:p.Cys118= | |
| ENST00000696065.1:c.66-1372G= | ENSP00000512368.1:n.66-1372G= | |
| ENST00000696074.1:n.122G= | ||
| ENST00000696075.1:c.*476G= | ENSP00000512374.1:n.*476G= | |
| ENST00000696076.1:c.506G= | ENSP00000512375.1:p.Cys169= | |
| ENST00000696077.1:c.503G= | ENSP00000512376.1:p.Cys168= | |
| ENST00000696078.1:c.506G= | ENSP00000512377.1:p.Cys169= | |
| ENST00000696079.1:c.506G= | ENSP00000512378.1:p.Cys169= | |
| ENST00000696080.1:c.506G= | ENSP00000512379.1:p.Cys169= | |
| ENST00000696081.1:n.625G= | ||
| ENST00000696082.1:c.584G= | ENSP00000512380.1:p.Cys195= | |
| ENST00000696083.1:n.1387G= | ||
| ENST00000696084.1:n.607G= | ||
| ENST00000696104.1:c.363-1372G= | ENSP00000512399.1:n.363-1372G= | |
| ENST00000696105.1:c.*47G= | ENSP00000512400.1:n.*47G= | |
| ENST00000372874.9:c.506G= MANE Select | ENSP00000361965.4:p.Cys169= | |
| ENST00000372874.8:c.506G= | ENSP00000361965.4:p.Cys169= | |
| ENST00000464097.5:n.180G= | ||
| ENST00000492931.5:n.590G= | ||
| ENST00000536532.5:c.506G= | ENSP00000440946.1:p.Cys169= | |
| ENST00000537820.1:c.506G= | ENSP00000441818.1:p.Cys169= | |
| ENST00000539235.5:c.219-1224G= | ENSP00000446464.1:n.219-1224G= | |
| NM_000022.2:c.506G= , LRG_16t1:c.506G= | NP_000013.2:p.Cys169= | |
| XM_005260236.2:c.506G= | XP_005260293.1:p.Cys169= | |
| XM_011528478.1:c.101G= | XP_011526780.1:p.Cys34= | |
| XM_011528479.1:c.101G= | XP_011526781.1:p.Cys34= | |
| XR_244129.1:n.560G= | ||
| NM_000022.3:c.506G= | NP_000013.2:p.Cys169= | |
| NM_001322050.1:c.101G= | NP_001308979.1:p.Cys34= | |
| NM_001322051.1:c.506G= | NP_001308980.1:p.Cys169= | |
| NR_136160.1:n.657G= | ||
| NM_000022.4:c.506G= MANE Select | NP_000013.2:p.Cys169= | |
| NM_001322050.2:c.101G= | NP_001308979.1:p.Cys34= | |
| NM_001322051.2:c.506G= | NP_001308980.1:p.Cys169= | |
| NR_136160.2:n.598G= |