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.2088526T= , CM000678.2:g.2088526T= | GRCh38 |
| NC_000016.9:g.2138527T= , CM000678.1:g.2138527T= | GRCh37 |
| NC_000016.8:g.2078528T= | NCBI36 |
| NG_005895.1:g.44221T= , LRG_487:g.44221T= | |
| NG_008617.1:g.54695A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3689T= | ENSP00000455997.2:n.*3689T= | |
| ENST00000642206.2:c.5187T= | ENSP00000495146.2:p.Thr1729= | |
| ENST00000642365.2:c.5337T= | ENSP00000495459.2:p.Thr1779= | |
| ENST00000644417.2:c.*5853T= | ENSP00000493912.2:n.*5853T= | |
| ENST00000646464.2:c.*8089T= | ENSP00000496610.2:n.*8089T= | |
| ENST00000219476.9:c.5340T= MANE Select | ENSP00000219476.3:p.Thr1780= | |
| ENST00000350773.9:c.5271T= | ENSP00000344383.4:p.Thr1757= | |
| ENST00000401874.7:c.5139T= | ENSP00000384468.2:p.Thr1713= | |
| ENST00000568454.6:c.5172T= | ENSP00000454487.1:p.Thr1724= | |
| ENST00000569110.2:c.1563T= | ||
| ENST00000569930.2:n.3222T= | ||
| ENST00000642365.1:c.3994T= | ||
| ENST00000642561.1:c.5199T= | ENSP00000495099.1:p.Thr1733= | |
| ENST00000642791.1:n.937T= | ||
| ENST00000642797.1:c.5142T= | ENSP00000493846.1:p.Thr1714= | |
| ENST00000642936.1:c.5208T= | ENSP00000494514.1:p.Thr1736= | |
| ENST00000643088.1:c.5133T= | ENSP00000494747.1:p.Thr1711= | |
| ENST00000643426.1:n.2988T= | ||
| ENST00000643946.1:c.5265T= | ENSP00000495927.1:p.Thr1755= | |
| ENST00000644043.1:c.5211T= | ENSP00000496262.1:p.Thr1737= | |
| ENST00000644329.1:c.5226T= | ENSP00000496611.1:p.Thr1742= | |
| ENST00000644335.1:c.5136T= | ENSP00000496317.1:p.Thr1712= | |
| ENST00000644399.1:c.5261T= | ||
| ENST00000645024.1:n.3424T= | ||
| ENST00000646388.1:c.5334T= | ENSP00000495921.1:p.Thr1778= | |
| ENST00000646634.1:n.4155T= | ||
| ENST00000646674.1:n.2592T= | ||
| ENST00000647042.1:n.2563T= | ||
| ENST00000647180.1:n.2453T= | ||
| ENST00000219476.7:c.5340T= | ENSP00000219476.3:p.Thr1780= | |
| ENST00000350773.8:c.5271T= | ENSP00000344383.4:p.Thr1757= | |
| ENST00000382538.10:c.4995T= | ENSP00000371978.6:p.Thr1665= | |
| ENST00000401874.6:c.5139T= | ENSP00000384468.2:p.Thr1713= | |
| ENST00000439117.6:c.*4507T= | ENSP00000406980.2:n.*4507T= | |
| ENST00000439673.6:c.5031T= | ENSP00000399232.2:p.Thr1677= | |
| ENST00000497886.5:n.3063T= | ||
| ENST00000568454.5:c.5172T= | ENSP00000454487.1:p.Thr1724= | |
| ENST00000569110.1:c.1522T= | ||
| ENST00000569930.1:n.2455T= | ||
| NM_000548.3:c.5340T= , LRG_487t1:c.5340T= | NP_000539.2:p.Thr1780= | |
| NM_001077183.1:c.5139T= | NP_001070651.1:p.Thr1713= | |
| NM_001114382.1:c.5271T= | NP_001107854.1:p.Thr1757= | |
| XM_005255529.3:c.5211T= | XP_005255586.2:p.Thr1737= | |
| XM_005255531.3:c.5142T= | XP_005255588.2:p.Thr1714= | |
| XM_011522636.1:c.5394T= | XP_011520938.1:p.Thr1798= | |
| XM_011522637.1:c.5391T= | XP_011520939.1:p.Thr1797= | |
| XM_011522638.1:c.5283T= | XP_011520940.1:p.Thr1761= | |
| XM_011522639.1:c.5265T= | XP_011520941.1:p.Thr1755= | |
| XM_011522640.1:c.5262T= | XP_011520942.1:p.Thr1754= | |
| XM_011522641.1:c.5031T= | XP_011520943.1:p.Thr1677= | |
| NM_000548.4:c.5340T= | NP_000539.2:p.Thr1780= | |
| NM_001077183.2:c.5139T= | NP_001070651.1:p.Thr1713= | |
| NM_001114382.2:c.5271T= | NP_001107854.1:p.Thr1757= | |
| NM_001318827.1:c.5031T= | NP_001305756.1:p.Thr1677= | |
| NM_001318829.1:c.4995T= | NP_001305758.1:p.Thr1665= | |
| NM_001318831.1:c.4608T= | NP_001305760.1:p.Thr1536= | |
| NM_001318832.1:c.5172T= | NP_001305761.1:p.Thr1724= | |
| NM_001363528.1:c.5142T= | NP_001350457.1:p.Thr1714= | |
| NM_021055.2:c.5211T= | NP_066399.2:p.Thr1737= | |
| XM_005255531.4:c.5142T= | XP_005255588.2:p.Thr1714= | |
| XM_011522636.2:c.5394T= | XP_011520938.1:p.Thr1798= | |
| XM_011522637.2:c.5391T= | XP_011520939.1:p.Thr1797= | |
| XM_011522638.2:c.5556T= | XP_011520940.2:p.Thr1852= | |
| XM_011522639.2:c.5265T= | XP_011520941.1:p.Thr1755= | |
| XM_011522640.2:c.5262T= | XP_011520942.1:p.Thr1754= | |
| XM_017023615.1:c.5337T= | XP_016879104.1:p.Thr1779= | |
| XM_017023616.1:c.5208T= | XP_016879105.1:p.Thr1736= | |
| XM_017023617.1:c.5304T= | XP_016879106.1:p.Thr1768= | |
| XM_017023618.1:c.4050T= | XP_016879107.1:p.Thr1350= | |
| XM_024450413.1:c.5226T= | XP_024306181.1:p.Thr1742= | |
| NM_000548.5:c.5340T= MANE Select | NP_000539.2:p.Thr1780= | |
| NM_001370404.1:c.5208T= | NP_001357333.1:p.Thr1736= | |
| NM_001370405.1:c.5199T= | NP_001357334.1:p.Thr1733= | |
| NM_001077183.3:c.5139T= | NP_001070651.1:p.Thr1713= | |
| NM_001114382.3:c.5271T= | NP_001107854.1:p.Thr1757= | |
| NM_001318827.2:c.5031T= | NP_001305756.1:p.Thr1677= | |
| NM_001318829.2:c.4995T= | NP_001305758.1:p.Thr1665= | |
| NM_001318831.2:c.4608T= | NP_001305760.1:p.Thr1536= | |
| NM_001318832.2:c.5172T= | NP_001305761.1:p.Thr1724= | |
| NM_001363528.2:c.5142T= | NP_001350457.1:p.Thr1714= | |
| NM_021055.3:c.5211T= | NP_066399.2:p.Thr1737= |