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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088289T>G , CM000678.2:g.2088289T>G | GRCh38 |
| NC_000016.9:g.2138290T>G , CM000678.1:g.2138290T>G | GRCh37 |
| NC_000016.8:g.2078291T>G | NCBI36 |
| NG_005895.1:g.43984T>G , LRG_487:g.43984T>G | |
| NG_008617.1:g.54932A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3572T>G | ENSP00000455997.2:n.*3572T>G | |
| ENST00000642206.2:c.5070T>G | ENSP00000495146.2:p.Ile1690Met | |
| ENST00000642365.2:c.5220T>G | ENSP00000495459.2:p.Ile1740Met | |
| ENST00000644417.2:c.*5736T>G | ENSP00000493912.2:n.*5736T>G | |
| ENST00000646464.2:c.*7972T>G | ENSP00000496610.2:n.*7972T>G | |
| ENST00000219476.9:c.5223T>G MANE Select | ENSP00000219476.3:p.Ile1741Met | |
| ENST00000350773.9:c.5154T>G | ENSP00000344383.4:p.Ile1718Met | |
| ENST00000401874.7:c.5022T>G | ENSP00000384468.2:p.Ile1674Met | |
| ENST00000568454.6:c.5055T>G | ENSP00000454487.1:p.Ile1685Met | |
| ENST00000569110.2:c.1446T>G | ||
| ENST00000569930.2:n.3105T>G | ||
| ENST00000642365.1:c.3877T>G | ||
| ENST00000642561.1:c.5082T>G | ENSP00000495099.1:p.Ile1694Met | |
| ENST00000642791.1:n.820T>G | ||
| ENST00000642797.1:c.5025T>G | ENSP00000493846.1:p.Ile1675Met | |
| ENST00000642936.1:c.5091T>G | ENSP00000494514.1:p.Ile1697Met | |
| ENST00000643088.1:c.5016T>G | ENSP00000494747.1:p.Ile1672Met | |
| ENST00000643426.1:n.2871T>G | ||
| ENST00000643946.1:c.5148T>G | ENSP00000495927.1:p.Ile1716Met | |
| ENST00000644043.1:c.5094T>G | ENSP00000496262.1:p.Ile1698Met | |
| ENST00000644329.1:c.5109T>G | ENSP00000496611.1:p.Ile1703Met | |
| ENST00000644335.1:c.5019T>G | ENSP00000496317.1:p.Ile1673Met | |
| ENST00000644399.1:c.5144T>G | ||
| ENST00000645024.1:n.3307T>G | ||
| ENST00000646388.1:c.5217T>G | ENSP00000495921.1:p.Ile1739Met | |
| ENST00000646634.1:n.4038T>G | ||
| ENST00000646674.1:n.2475T>G | ||
| ENST00000647042.1:n.2446T>G | ||
| ENST00000647180.1:n.2336T>G | ||
| ENST00000219476.7:c.5223T>G | ENSP00000219476.3:p.Ile1741Met | |
| ENST00000350773.8:c.5154T>G | ENSP00000344383.4:p.Ile1718Met | |
| ENST00000382538.10:c.4878T>G | ENSP00000371978.6:p.Ile1626Met | |
| ENST00000401874.6:c.5022T>G | ENSP00000384468.2:p.Ile1674Met | |
| ENST00000439117.6:c.*4390T>G | ENSP00000406980.2:n.*4390T>G | |
| ENST00000439673.6:c.4914T>G | ENSP00000399232.2:p.Ile1638Met | |
| ENST00000497886.5:n.2946T>G | ||
| ENST00000568454.5:c.5055T>G | ENSP00000454487.1:p.Ile1685Met | |
| ENST00000569110.1:c.1405T>G | ||
| ENST00000569930.1:n.2338T>G | ||
| NM_000548.3:c.5223T>G , LRG_487t1:c.5223T>G | NP_000539.2:p.Ile1741Met | |
| NM_001077183.1:c.5022T>G | NP_001070651.1:p.Ile1674Met | |
| NM_001114382.1:c.5154T>G | NP_001107854.1:p.Ile1718Met | |
| XM_005255529.3:c.5094T>G | XP_005255586.2:p.Ile1698Met | |
| XM_005255531.3:c.5025T>G | XP_005255588.2:p.Ile1675Met | |
| XM_011522636.1:c.5277T>G | XP_011520938.1:p.Ile1759Met | |
| XM_011522637.1:c.5274T>G | XP_011520939.1:p.Ile1758Met | |
| XM_011522638.1:c.5166T>G | XP_011520940.1:p.Ile1722Met | |
| XM_011522639.1:c.5148T>G | XP_011520941.1:p.Ile1716Met | |
| XM_011522640.1:c.5145T>G | XP_011520942.1:p.Ile1715Met | |
| XM_011522641.1:c.4914T>G | XP_011520943.1:p.Ile1638Met | |
| NM_000548.4:c.5223T>G | NP_000539.2:p.Ile1741Met | |
| NM_001077183.2:c.5022T>G | NP_001070651.1:p.Ile1674Met | |
| NM_001114382.2:c.5154T>G | NP_001107854.1:p.Ile1718Met | |
| NM_001318827.1:c.4914T>G | NP_001305756.1:p.Ile1638Met | |
| NM_001318829.1:c.4878T>G | NP_001305758.1:p.Ile1626Met | |
| NM_001318831.1:c.4491T>G | NP_001305760.1:p.Ile1497Met | |
| NM_001318832.1:c.5055T>G | NP_001305761.1:p.Ile1685Met | |
| NM_001363528.1:c.5025T>G | NP_001350457.1:p.Ile1675Met | |
| NM_021055.2:c.5094T>G | NP_066399.2:p.Ile1698Met | |
| XM_005255531.4:c.5025T>G | XP_005255588.2:p.Ile1675Met | |
| XM_011522636.2:c.5277T>G | XP_011520938.1:p.Ile1759Met | |
| XM_011522637.2:c.5274T>G | XP_011520939.1:p.Ile1758Met | |
| XM_011522638.2:c.5439T>G | XP_011520940.2:p.Ile1813Met | |
| XM_011522639.2:c.5148T>G | XP_011520941.1:p.Ile1716Met | |
| XM_011522640.2:c.5145T>G | XP_011520942.1:p.Ile1715Met | |
| XM_017023615.1:c.5220T>G | XP_016879104.1:p.Ile1740Met | |
| XM_017023616.1:c.5091T>G | XP_016879105.1:p.Ile1697Met | |
| XM_017023617.1:c.5187T>G | XP_016879106.1:p.Ile1729Met | |
| XM_017023618.1:c.3933T>G | XP_016879107.1:p.Ile1311Met | |
| XM_024450413.1:c.5109T>G | XP_024306181.1:p.Ile1703Met | |
| NM_000548.5:c.5223T>G MANE Select | NP_000539.2:p.Ile1741Met | |
| NM_001370404.1:c.5091T>G | NP_001357333.1:p.Ile1697Met | |
| NM_001370405.1:c.5082T>G | NP_001357334.1:p.Ile1694Met | |
| NM_001077183.3:c.5022T>G | NP_001070651.1:p.Ile1674Met | |
| NM_001114382.3:c.5154T>G | NP_001107854.1:p.Ile1718Met | |
| NM_001318827.2:c.4914T>G | NP_001305756.1:p.Ile1638Met | |
| NM_001318829.2:c.4878T>G | NP_001305758.1:p.Ile1626Met | |
| NM_001318831.2:c.4491T>G | NP_001305760.1:p.Ile1497Met | |
| NM_001318832.2:c.5055T>G | NP_001305761.1:p.Ile1685Met | |
| NM_001363528.2:c.5025T>G | NP_001350457.1:p.Ile1675Met | |
| NM_021055.3:c.5094T>G | NP_066399.2:p.Ile1698Met |