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.2088293C>T , CM000678.2:g.2088293C>T | GRCh38 |
| NC_000016.9:g.2138294C>T , CM000678.1:g.2138294C>T | GRCh37 |
| NC_000016.8:g.2078295C>T | NCBI36 |
| NG_005895.1:g.43988C>T , LRG_487:g.43988C>T | |
| NG_008617.1:g.54928G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3576C>T | ENSP00000455997.2:n.*3576C>T | |
| ENST00000642206.2:c.5074C>T | ENSP00000495146.2:p.Arg1692Trp | |
| ENST00000642365.2:c.5224C>T | ENSP00000495459.2:p.Arg1742Trp | |
| ENST00000644417.2:c.*5740C>T | ENSP00000493912.2:n.*5740C>T | |
| ENST00000646464.2:c.*7976C>T | ENSP00000496610.2:n.*7976C>T | |
| ENST00000219476.9:c.5227C>T MANE Select | ENSP00000219476.3:p.Arg1743Trp | |
| ENST00000350773.9:c.5158C>T | ENSP00000344383.4:p.Arg1720Trp | |
| ENST00000401874.7:c.5026C>T | ENSP00000384468.2:p.Arg1676Trp | |
| ENST00000568454.6:c.5059C>T | ENSP00000454487.1:p.Arg1687Trp | |
| ENST00000569110.2:c.1450C>T | ||
| ENST00000569930.2:n.3109C>T | ||
| ENST00000642365.1:c.3881C>T | ||
| ENST00000642561.1:c.5086C>T | ENSP00000495099.1:p.Arg1696Trp | |
| ENST00000642791.1:n.824C>T | ||
| ENST00000642797.1:c.5029C>T | ENSP00000493846.1:p.Arg1677Trp | |
| ENST00000642936.1:c.5095C>T | ENSP00000494514.1:p.Arg1699Trp | |
| ENST00000643088.1:c.5020C>T | ENSP00000494747.1:p.Arg1674Trp | |
| ENST00000643426.1:n.2875C>T | ||
| ENST00000643946.1:c.5152C>T | ENSP00000495927.1:p.Arg1718Trp | |
| ENST00000644043.1:c.5098C>T | ENSP00000496262.1:p.Arg1700Trp | |
| ENST00000644329.1:c.5113C>T | ENSP00000496611.1:p.Arg1705Trp | |
| ENST00000644335.1:c.5023C>T | ENSP00000496317.1:p.Arg1675Trp | |
| ENST00000644399.1:c.5148C>T | ||
| ENST00000645024.1:n.3311C>T | ||
| ENST00000646388.1:c.5221C>T | ENSP00000495921.1:p.Arg1741Trp | |
| ENST00000646634.1:n.4042C>T | ||
| ENST00000646674.1:n.2479C>T | ||
| ENST00000647042.1:n.2450C>T | ||
| ENST00000647180.1:n.2340C>T | ||
| ENST00000219476.7:c.5227C>T | ENSP00000219476.3:p.Arg1743Trp | |
| ENST00000350773.8:c.5158C>T | ENSP00000344383.4:p.Arg1720Trp | |
| ENST00000382538.10:c.4882C>T | ENSP00000371978.6:p.Arg1628Trp | |
| ENST00000401874.6:c.5026C>T | ENSP00000384468.2:p.Arg1676Trp | |
| ENST00000439117.6:c.*4394C>T | ENSP00000406980.2:n.*4394C>T | |
| ENST00000439673.6:c.4918C>T | ENSP00000399232.2:p.Arg1640Trp | |
| ENST00000497886.5:n.2950C>T | ||
| ENST00000568454.5:c.5059C>T | ENSP00000454487.1:p.Arg1687Trp | |
| ENST00000569110.1:c.1409C>T | ||
| ENST00000569930.1:n.2342C>T | ||
| NM_000548.3:c.5227C>T , LRG_487t1:c.5227C>T | NP_000539.2:p.Arg1743Trp | |
| NM_001077183.1:c.5026C>T | NP_001070651.1:p.Arg1676Trp | |
| NM_001114382.1:c.5158C>T | NP_001107854.1:p.Arg1720Trp | |
| XM_005255529.3:c.5098C>T | XP_005255586.2:p.Arg1700Trp | |
| XM_005255531.3:c.5029C>T | XP_005255588.2:p.Arg1677Trp | |
| XM_011522636.1:c.5281C>T | XP_011520938.1:p.Arg1761Trp | |
| XM_011522637.1:c.5278C>T | XP_011520939.1:p.Arg1760Trp | |
| XM_011522638.1:c.5170C>T | XP_011520940.1:p.Arg1724Trp | |
| XM_011522639.1:c.5152C>T | XP_011520941.1:p.Arg1718Trp | |
| XM_011522640.1:c.5149C>T | XP_011520942.1:p.Arg1717Trp | |
| XM_011522641.1:c.4918C>T | XP_011520943.1:p.Arg1640Trp | |
| NM_000548.4:c.5227C>T | NP_000539.2:p.Arg1743Trp | |
| NM_001077183.2:c.5026C>T | NP_001070651.1:p.Arg1676Trp | |
| NM_001114382.2:c.5158C>T | NP_001107854.1:p.Arg1720Trp | |
| NM_001318827.1:c.4918C>T | NP_001305756.1:p.Arg1640Trp | |
| NM_001318829.1:c.4882C>T | NP_001305758.1:p.Arg1628Trp | |
| NM_001318831.1:c.4495C>T | NP_001305760.1:p.Arg1499Trp | |
| NM_001318832.1:c.5059C>T | NP_001305761.1:p.Arg1687Trp | |
| NM_001363528.1:c.5029C>T | NP_001350457.1:p.Arg1677Trp | |
| NM_021055.2:c.5098C>T | NP_066399.2:p.Arg1700Trp | |
| XM_005255531.4:c.5029C>T | XP_005255588.2:p.Arg1677Trp | |
| XM_011522636.2:c.5281C>T | XP_011520938.1:p.Arg1761Trp | |
| XM_011522637.2:c.5278C>T | XP_011520939.1:p.Arg1760Trp | |
| XM_011522638.2:c.5443C>T | XP_011520940.2:p.Arg1815Trp | |
| XM_011522639.2:c.5152C>T | XP_011520941.1:p.Arg1718Trp | |
| XM_011522640.2:c.5149C>T | XP_011520942.1:p.Arg1717Trp | |
| XM_017023615.1:c.5224C>T | XP_016879104.1:p.Arg1742Trp | |
| XM_017023616.1:c.5095C>T | XP_016879105.1:p.Arg1699Trp | |
| XM_017023617.1:c.5191C>T | XP_016879106.1:p.Arg1731Trp | |
| XM_017023618.1:c.3937C>T | XP_016879107.1:p.Arg1313Trp | |
| XM_024450413.1:c.5113C>T | XP_024306181.1:p.Arg1705Trp | |
| NM_000548.5:c.5227C>T MANE Select | NP_000539.2:p.Arg1743Trp | |
| NM_001370404.1:c.5095C>T | NP_001357333.1:p.Arg1699Trp | |
| NM_001370405.1:c.5086C>T | NP_001357334.1:p.Arg1696Trp | |
| NM_001077183.3:c.5026C>T | NP_001070651.1:p.Arg1676Trp | |
| NM_001114382.3:c.5158C>T | NP_001107854.1:p.Arg1720Trp | |
| NM_001318827.2:c.4918C>T | NP_001305756.1:p.Arg1640Trp | |
| NM_001318829.2:c.4882C>T | NP_001305758.1:p.Arg1628Trp | |
| NM_001318831.2:c.4495C>T | NP_001305760.1:p.Arg1499Trp | |
| NM_001318832.2:c.5059C>T | NP_001305761.1:p.Arg1687Trp | |
| NM_001363528.2:c.5029C>T | NP_001350457.1:p.Arg1677Trp | |
| NM_021055.3:c.5098C>T | NP_066399.2:p.Arg1700Trp |