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.2088125G>C , CM000678.2:g.2088125G>C | GRCh38 |
| NC_000016.9:g.2138126G>C , CM000678.1:g.2138126G>C | GRCh37 |
| NC_000016.8:g.2078127G>C | NCBI36 |
| NG_005895.1:g.43820G>C , LRG_487:g.43820G>C | |
| NG_008617.1:g.55096C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3495G>C | ENSP00000455997.2:n.*3495G>C | |
| ENST00000642206.2:c.4993G>C | ENSP00000495146.2:p.Ala1665Pro | |
| ENST00000642365.2:c.5143G>C | ENSP00000495459.2:p.Ala1715Pro | |
| ENST00000644417.2:c.*5659G>C | ENSP00000493912.2:n.*5659G>C | |
| ENST00000646464.2:c.*7895G>C | ENSP00000496610.2:n.*7895G>C | |
| ENST00000219476.9:c.5146G>C MANE Select | ENSP00000219476.3:p.Ala1716Pro | |
| ENST00000350773.9:c.5077G>C | ENSP00000344383.4:p.Ala1693Pro | |
| ENST00000401874.7:c.4945G>C | ENSP00000384468.2:p.Ala1649Pro | |
| ENST00000568454.6:c.4978G>C | ENSP00000454487.1:p.Ala1660Pro | |
| ENST00000569110.2:c.1369G>C | ||
| ENST00000569930.2:n.3028G>C | ||
| ENST00000642365.1:c.3800G>C | ||
| ENST00000642561.1:c.5017G>C | ENSP00000495099.1:p.Ala1673Pro | |
| ENST00000642791.1:n.743G>C | ||
| ENST00000642797.1:c.4948G>C | ENSP00000493846.1:p.Ala1650Pro | |
| ENST00000642936.1:c.5014G>C | ENSP00000494514.1:p.Ala1672Pro | |
| ENST00000643088.1:c.4939G>C | ENSP00000494747.1:p.Ala1647Pro | |
| ENST00000643426.1:n.2794G>C | ||
| ENST00000643946.1:c.5071G>C | ENSP00000495927.1:p.Ala1691Pro | |
| ENST00000644043.1:c.5017G>C | ENSP00000496262.1:p.Ala1673Pro | |
| ENST00000644329.1:c.4945G>C | ENSP00000496611.1:p.Ala1649Pro | |
| ENST00000644335.1:c.4942G>C | ENSP00000496317.1:p.Ala1648Pro | |
| ENST00000644399.1:c.5067G>C | ||
| ENST00000645024.1:n.3230G>C | ||
| ENST00000646388.1:c.5140G>C | ENSP00000495921.1:p.Ala1714Pro | |
| ENST00000646634.1:n.3961G>C | ||
| ENST00000646674.1:n.2398G>C | ||
| ENST00000647042.1:n.2369G>C | ||
| ENST00000647180.1:n.2259G>C | ||
| ENST00000219476.7:c.5146G>C | ENSP00000219476.3:p.Ala1716Pro | |
| ENST00000350773.8:c.5077G>C | ENSP00000344383.4:p.Ala1693Pro | |
| ENST00000382538.10:c.4801G>C | ENSP00000371978.6:p.Ala1601Pro | |
| ENST00000401874.6:c.4945G>C | ENSP00000384468.2:p.Ala1649Pro | |
| ENST00000439117.6:c.*4313G>C | ENSP00000406980.2:n.*4313G>C | |
| ENST00000439673.6:c.4837G>C | ENSP00000399232.2:p.Ala1613Pro | |
| ENST00000497886.5:n.2869G>C | ||
| ENST00000568454.5:c.4978G>C | ENSP00000454487.1:p.Ala1660Pro | |
| ENST00000569110.1:c.1328G>C | ||
| ENST00000569930.1:n.2261G>C | ||
| NM_000548.3:c.5146G>C , LRG_487t1:c.5146G>C | NP_000539.2:p.Ala1716Pro | |
| NM_001077183.1:c.4945G>C | NP_001070651.1:p.Ala1649Pro | |
| NM_001114382.1:c.5077G>C | NP_001107854.1:p.Ala1693Pro | |
| XM_005255529.3:c.5017G>C | XP_005255586.2:p.Ala1673Pro | |
| XM_005255531.3:c.4948G>C | XP_005255588.2:p.Ala1650Pro | |
| XM_011522636.1:c.5200G>C | XP_011520938.1:p.Ala1734Pro | |
| XM_011522637.1:c.5197G>C | XP_011520939.1:p.Ala1733Pro | |
| XM_011522638.1:c.5089G>C | XP_011520940.1:p.Ala1697Pro | |
| XM_011522639.1:c.5071G>C | XP_011520941.1:p.Ala1691Pro | |
| XM_011522640.1:c.5068G>C | XP_011520942.1:p.Ala1690Pro | |
| XM_011522641.1:c.4837G>C | XP_011520943.1:p.Ala1613Pro | |
| NM_000548.4:c.5146G>C | NP_000539.2:p.Ala1716Pro | |
| NM_001077183.2:c.4945G>C | NP_001070651.1:p.Ala1649Pro | |
| NM_001114382.2:c.5077G>C | NP_001107854.1:p.Ala1693Pro | |
| NM_001318827.1:c.4837G>C | NP_001305756.1:p.Ala1613Pro | |
| NM_001318829.1:c.4801G>C | NP_001305758.1:p.Ala1601Pro | |
| NM_001318831.1:c.4414G>C | NP_001305760.1:p.Ala1472Pro | |
| NM_001318832.1:c.4978G>C | NP_001305761.1:p.Ala1660Pro | |
| NM_001363528.1:c.4948G>C | NP_001350457.1:p.Ala1650Pro | |
| NM_021055.2:c.5017G>C | NP_066399.2:p.Ala1673Pro | |
| XM_005255531.4:c.4948G>C | XP_005255588.2:p.Ala1650Pro | |
| XM_011522636.2:c.5200G>C | XP_011520938.1:p.Ala1734Pro | |
| XM_011522637.2:c.5197G>C | XP_011520939.1:p.Ala1733Pro | |
| XM_011522638.2:c.5362G>C | XP_011520940.2:p.Ala1788Pro | |
| XM_011522639.2:c.5071G>C | XP_011520941.1:p.Ala1691Pro | |
| XM_011522640.2:c.5068G>C | XP_011520942.1:p.Ala1690Pro | |
| XM_017023615.1:c.5143G>C | XP_016879104.1:p.Ala1715Pro | |
| XM_017023616.1:c.5014G>C | XP_016879105.1:p.Ala1672Pro | |
| XM_017023617.1:c.5110G>C | XP_016879106.1:p.Ala1704Pro | |
| XM_017023618.1:c.3856G>C | XP_016879107.1:p.Ala1286Pro | |
| XM_024450413.1:c.4945G>C | XP_024306181.1:p.Ala1649Pro | |
| NM_000548.5:c.5146G>C MANE Select | NP_000539.2:p.Ala1716Pro | |
| NM_001370404.1:c.5014G>C | NP_001357333.1:p.Ala1672Pro | |
| NM_001370405.1:c.5017G>C | NP_001357334.1:p.Ala1673Pro | |
| NM_001077183.3:c.4945G>C | NP_001070651.1:p.Ala1649Pro | |
| NM_001114382.3:c.5077G>C | NP_001107854.1:p.Ala1693Pro | |
| NM_001318827.2:c.4837G>C | NP_001305756.1:p.Ala1613Pro | |
| NM_001318829.2:c.4801G>C | NP_001305758.1:p.Ala1601Pro | |
| NM_001318831.2:c.4414G>C | NP_001305760.1:p.Ala1472Pro | |
| NM_001318832.2:c.4978G>C | NP_001305761.1:p.Ala1660Pro | |
| NM_001363528.2:c.4948G>C | NP_001350457.1:p.Ala1650Pro | |
| NM_021055.3:c.5017G>C | NP_066399.2:p.Ala1673Pro |