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_000016.10:g.2064296A= , CM000678.2:g.2064296A= | GRCh38 |
| NC_000016.9:g.2114297A= , CM000678.1:g.2114297A= | GRCh37 |
| NC_000016.8:g.2054298A= | NCBI36 |
| NG_005895.1:g.19991A= , LRG_487:g.19991A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*15A= | ENSP00000455997.2:n.*15A= | |
| ENST00000642206.2:c.1513A= | ENSP00000495146.2:p.Ile505= | |
| ENST00000642365.2:c.1468A= | ENSP00000495459.2:p.Ile490= | |
| ENST00000644417.2:c.*905A= | ENSP00000493912.2:n.*905A= | |
| ENST00000646464.2:c.*1073A= | ENSP00000496610.2:n.*1073A= | |
| ENST00000219476.9:c.1468A= MANE Select | ENSP00000219476.3:p.Ile490= | |
| ENST00000350773.9:c.1468A= | ENSP00000344383.4:p.Ile490= | |
| ENST00000401874.7:c.1468A= | ENSP00000384468.2:p.Ile490= | |
| ENST00000463601.2:n.1596A= | ||
| ENST00000568454.6:c.1501A= | ENSP00000454487.1:p.Ile501= | |
| ENST00000642365.1:c.125A= | ||
| ENST00000642561.1:c.1468A= | ENSP00000495099.1:p.Ile490= | |
| ENST00000642797.1:c.1468A= | ENSP00000493846.1:p.Ile490= | |
| ENST00000642812.1:n.1513A= | ||
| ENST00000642936.1:c.1468A= | ENSP00000494514.1:p.Ile490= | |
| ENST00000643088.1:c.1468A= | ENSP00000494747.1:p.Ile490= | |
| ENST00000643149.1:n.3478A= | ||
| ENST00000643298.1:c.*970A= | ENSP00000494393.1:n.*970A= | |
| ENST00000643745.1:c.*400A= | ENSP00000495948.1:n.*400A= | |
| ENST00000643946.1:c.1468A= | ENSP00000495927.1:p.Ile490= | |
| ENST00000644043.1:c.1468A= | ENSP00000496262.1:p.Ile490= | |
| ENST00000644135.1:c.1468A= | ENSP00000495644.1:p.Ile490= | |
| ENST00000644222.1:n.1555A= | ||
| ENST00000644329.1:c.1468A= | ENSP00000496611.1:p.Ile490= | |
| ENST00000644335.1:c.1468A= | ENSP00000496317.1:p.Ile490= | |
| ENST00000644399.1:c.1461A= | ||
| ENST00000644665.1:n.2642A= | ||
| ENST00000644847.1:n.460A= | ||
| ENST00000645591.1:n.2526A= | ||
| ENST00000646388.1:c.1468A= | ENSP00000495921.1:p.Ile490= | |
| ENST00000646634.1:n.481A= | ||
| ENST00000647234.1:n.3226A= | ||
| ENST00000647242.1:n.2104A= | ||
| ENST00000219476.7:c.1468A= | ENSP00000219476.3:p.Ile490= | |
| ENST00000350773.8:c.1468A= | ENSP00000344383.4:p.Ile490= | |
| ENST00000382538.10:c.1321A= | ENSP00000371978.6:p.Ile441= | |
| ENST00000401874.6:c.1468A= | ENSP00000384468.2:p.Ile490= | |
| ENST00000439117.6:c.*767A= | ENSP00000406980.2:n.*767A= | |
| ENST00000439673.6:c.1357A= | ENSP00000399232.2:p.Ile453= | |
| ENST00000490108.1:n.241A= | ||
| ENST00000568238.1:n.226A= | ||
| ENST00000568454.5:c.1501A= | ENSP00000454487.1:p.Ile501= | |
| ENST00000568566.5:c.108A= | ENSP00000455997.1:n.108A= | |
| NM_000548.3:c.1468A= , LRG_487t1:c.1468A= | NP_000539.2:p.Ile490= | |
| NM_001077183.1:c.1468A= | NP_001070651.1:p.Ile490= | |
| NM_001114382.1:c.1468A= | NP_001107854.1:p.Ile490= | |
| XM_005255529.3:c.1468A= | XP_005255586.2:p.Ile490= | |
| XM_005255531.3:c.1468A= | XP_005255588.2:p.Ile490= | |
| XM_011522636.1:c.1468A= | XP_011520938.1:p.Ile490= | |
| XM_011522637.1:c.1468A= | XP_011520939.1:p.Ile490= | |
| XM_011522638.1:c.1357A= | XP_011520940.1:p.Ile453= | |
| XM_011522639.1:c.1468A= | XP_011520941.1:p.Ile490= | |
| XM_011522640.1:c.1468A= | XP_011520942.1:p.Ile490= | |
| XM_011522641.1:c.1357A= | XP_011520943.1:p.Ile453= | |
| NM_000548.4:c.1468A= | NP_000539.2:p.Ile490= | |
| NM_001077183.2:c.1468A= | NP_001070651.1:p.Ile490= | |
| NM_001114382.2:c.1468A= | NP_001107854.1:p.Ile490= | |
| NM_001318827.1:c.1357A= | NP_001305756.1:p.Ile453= | |
| NM_001318829.1:c.1321A= | NP_001305758.1:p.Ile441= | |
| NM_001318831.1:c.868A= | NP_001305760.1:p.Ile290= | |
| NM_001318832.1:c.1501A= | NP_001305761.1:p.Ile501= | |
| NM_001363528.1:c.1468A= | NP_001350457.1:p.Ile490= | |
| NM_021055.2:c.1468A= | NP_066399.2:p.Ile490= | |
| XM_005255531.4:c.1468A= | XP_005255588.2:p.Ile490= | |
| XM_011522636.2:c.1468A= | XP_011520938.1:p.Ile490= | |
| XM_011522637.2:c.1468A= | XP_011520939.1:p.Ile490= | |
| XM_011522638.2:c.1630A= | XP_011520940.2:p.Ile544= | |
| XM_011522639.2:c.1468A= | XP_011520941.1:p.Ile490= | |
| XM_011522640.2:c.1468A= | XP_011520942.1:p.Ile490= | |
| XM_017023615.1:c.1468A= | XP_016879104.1:p.Ile490= | |
| XM_017023616.1:c.1468A= | XP_016879105.1:p.Ile490= | |
| XM_017023617.1:c.1630A= | XP_016879106.1:p.Ile544= | |
| XM_017023618.1:c.124A= | XP_016879107.1:p.Ile42= | |
| XM_024450413.1:c.1468A= | XP_024306181.1:p.Ile490= | |
| NM_000548.5:c.1468A= MANE Select | NP_000539.2:p.Ile490= | |
| NM_001370404.1:c.1468A= | NP_001357333.1:p.Ile490= | |
| NM_001370405.1:c.1468A= | NP_001357334.1:p.Ile490= | |
| NM_001077183.3:c.1468A= | NP_001070651.1:p.Ile490= | |
| NM_001114382.3:c.1468A= | NP_001107854.1:p.Ile490= | |
| NM_001318827.2:c.1357A= | NP_001305756.1:p.Ile453= | |
| NM_001318829.2:c.1321A= | NP_001305758.1:p.Ile441= | |
| NM_001318831.2:c.868A= | NP_001305760.1:p.Ile290= | |
| NM_001318832.2:c.1501A= | NP_001305761.1:p.Ile501= | |
| NM_001363528.2:c.1468A= | NP_001350457.1:p.Ile490= | |
| NM_021055.3:c.1468A= | NP_066399.2:p.Ile490= |