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.2088528C>A , CM000678.2:g.2088528C>A | GRCh38 |
| NC_000016.9:g.2138529C>A , CM000678.1:g.2138529C>A | GRCh37 |
| NC_000016.8:g.2078530C>A | NCBI36 |
| NG_005895.1:g.44223C>A , LRG_487:g.44223C>A | |
| NG_008617.1:g.54693G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3691C>A | ENSP00000455997.2:n.*3691C>A | |
| ENST00000642206.2:c.5189C>A | ENSP00000495146.2:p.Pro1730Gln | |
| ENST00000642365.2:c.5339C>A | ENSP00000495459.2:p.Pro1780Gln | |
| ENST00000644417.2:c.*5855C>A | ENSP00000493912.2:n.*5855C>A | |
| ENST00000646464.2:c.*8091C>A | ENSP00000496610.2:n.*8091C>A | |
| ENST00000219476.9:c.5342C>A MANE Select | ENSP00000219476.3:p.Pro1781Gln | |
| ENST00000350773.9:c.5273C>A | ENSP00000344383.4:p.Pro1758Gln | |
| ENST00000401874.7:c.5141C>A | ENSP00000384468.2:p.Pro1714Gln | |
| ENST00000568454.6:c.5174C>A | ENSP00000454487.1:p.Pro1725Gln | |
| ENST00000569110.2:c.1565C>A | ||
| ENST00000569930.2:n.3224C>A | ||
| ENST00000642365.1:c.3996C>A | ||
| ENST00000642561.1:c.5201C>A | ENSP00000495099.1:p.Pro1734Gln | |
| ENST00000642791.1:n.939C>A | ||
| ENST00000642797.1:c.5144C>A | ENSP00000493846.1:p.Pro1715Gln | |
| ENST00000642936.1:c.5210C>A | ENSP00000494514.1:p.Pro1737Gln | |
| ENST00000643088.1:c.5135C>A | ENSP00000494747.1:p.Pro1712Gln | |
| ENST00000643426.1:n.2990C>A | ||
| ENST00000643946.1:c.5267C>A | ENSP00000495927.1:p.Pro1756Gln | |
| ENST00000644043.1:c.5213C>A | ENSP00000496262.1:p.Pro1738Gln | |
| ENST00000644329.1:c.5228C>A | ENSP00000496611.1:p.Pro1743Gln | |
| ENST00000644335.1:c.5138C>A | ENSP00000496317.1:p.Pro1713Gln | |
| ENST00000644399.1:c.5263C>A | ||
| ENST00000645024.1:n.3426C>A | ||
| ENST00000646388.1:c.5336C>A | ENSP00000495921.1:p.Pro1779Gln | |
| ENST00000646634.1:n.4157C>A | ||
| ENST00000646674.1:n.2594C>A | ||
| ENST00000647042.1:n.2565C>A | ||
| ENST00000647180.1:n.2455C>A | ||
| ENST00000219476.7:c.5342C>A | ENSP00000219476.3:p.Pro1781Gln | |
| ENST00000350773.8:c.5273C>A | ENSP00000344383.4:p.Pro1758Gln | |
| ENST00000382538.10:c.4997C>A | ENSP00000371978.6:p.Pro1666Gln | |
| ENST00000401874.6:c.5141C>A | ENSP00000384468.2:p.Pro1714Gln | |
| ENST00000439117.6:c.*4509C>A | ENSP00000406980.2:n.*4509C>A | |
| ENST00000439673.6:c.5033C>A | ENSP00000399232.2:p.Pro1678Gln | |
| ENST00000497886.5:n.3065C>A | ||
| ENST00000568454.5:c.5174C>A | ENSP00000454487.1:p.Pro1725Gln | |
| ENST00000569110.1:c.1524C>A | ||
| ENST00000569930.1:n.2457C>A | ||
| NM_000548.3:c.5342C>A , LRG_487t1:c.5342C>A | NP_000539.2:p.Pro1781Gln | |
| NM_001077183.1:c.5141C>A | NP_001070651.1:p.Pro1714Gln | |
| NM_001114382.1:c.5273C>A | NP_001107854.1:p.Pro1758Gln | |
| XM_005255529.3:c.5213C>A | XP_005255586.2:p.Pro1738Gln | |
| XM_005255531.3:c.5144C>A | XP_005255588.2:p.Pro1715Gln | |
| XM_011522636.1:c.5396C>A | XP_011520938.1:p.Pro1799Gln | |
| XM_011522637.1:c.5393C>A | XP_011520939.1:p.Pro1798Gln | |
| XM_011522638.1:c.5285C>A | XP_011520940.1:p.Pro1762Gln | |
| XM_011522639.1:c.5267C>A | XP_011520941.1:p.Pro1756Gln | |
| XM_011522640.1:c.5264C>A | XP_011520942.1:p.Pro1755Gln | |
| XM_011522641.1:c.5033C>A | XP_011520943.1:p.Pro1678Gln | |
| NM_000548.4:c.5342C>A | NP_000539.2:p.Pro1781Gln | |
| NM_001077183.2:c.5141C>A | NP_001070651.1:p.Pro1714Gln | |
| NM_001114382.2:c.5273C>A | NP_001107854.1:p.Pro1758Gln | |
| NM_001318827.1:c.5033C>A | NP_001305756.1:p.Pro1678Gln | |
| NM_001318829.1:c.4997C>A | NP_001305758.1:p.Pro1666Gln | |
| NM_001318831.1:c.4610C>A | NP_001305760.1:p.Pro1537Gln | |
| NM_001318832.1:c.5174C>A | NP_001305761.1:p.Pro1725Gln | |
| NM_001363528.1:c.5144C>A | NP_001350457.1:p.Pro1715Gln | |
| NM_021055.2:c.5213C>A | NP_066399.2:p.Pro1738Gln | |
| XM_005255531.4:c.5144C>A | XP_005255588.2:p.Pro1715Gln | |
| XM_011522636.2:c.5396C>A | XP_011520938.1:p.Pro1799Gln | |
| XM_011522637.2:c.5393C>A | XP_011520939.1:p.Pro1798Gln | |
| XM_011522638.2:c.5558C>A | XP_011520940.2:p.Pro1853Gln | |
| XM_011522639.2:c.5267C>A | XP_011520941.1:p.Pro1756Gln | |
| XM_011522640.2:c.5264C>A | XP_011520942.1:p.Pro1755Gln | |
| XM_017023615.1:c.5339C>A | XP_016879104.1:p.Pro1780Gln | |
| XM_017023616.1:c.5210C>A | XP_016879105.1:p.Pro1737Gln | |
| XM_017023617.1:c.5306C>A | XP_016879106.1:p.Pro1769Gln | |
| XM_017023618.1:c.4052C>A | XP_016879107.1:p.Pro1351Gln | |
| XM_024450413.1:c.5228C>A | XP_024306181.1:p.Pro1743Gln | |
| NM_000548.5:c.5342C>A MANE Select | NP_000539.2:p.Pro1781Gln | |
| NM_001370404.1:c.5210C>A | NP_001357333.1:p.Pro1737Gln | |
| NM_001370405.1:c.5201C>A | NP_001357334.1:p.Pro1734Gln | |
| NM_001077183.3:c.5141C>A | NP_001070651.1:p.Pro1714Gln | |
| NM_001114382.3:c.5273C>A | NP_001107854.1:p.Pro1758Gln | |
| NM_001318827.2:c.5033C>A | NP_001305756.1:p.Pro1678Gln | |
| NM_001318829.2:c.4997C>A | NP_001305758.1:p.Pro1666Gln | |
| NM_001318831.2:c.4610C>A | NP_001305760.1:p.Pro1537Gln | |
| NM_001318832.2:c.5174C>A | NP_001305761.1:p.Pro1725Gln | |
| NM_001363528.2:c.5144C>A | NP_001350457.1:p.Pro1715Gln | |
| NM_021055.3:c.5213C>A | NP_066399.2:p.Pro1738Gln |