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.2088234C>A , CM000678.2:g.2088234C>A | GRCh38 |
| NC_000016.9:g.2138235C>A , CM000678.1:g.2138235C>A | GRCh37 |
| NC_000016.8:g.2078236C>A | NCBI36 |
| NG_005895.1:g.43929C>A , LRG_487:g.43929C>A | |
| NG_008617.1:g.54987G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3517C>A | ENSP00000455997.2:n.*3517C>A | |
| ENST00000642206.2:c.5015C>A | ENSP00000495146.2:p.Ser1672Ter | |
| ENST00000642365.2:c.5165C>A | ENSP00000495459.2:p.Ser1722Ter | |
| ENST00000644417.2:c.*5681C>A | ENSP00000493912.2:n.*5681C>A | |
| ENST00000646464.2:c.*7917C>A | ENSP00000496610.2:n.*7917C>A | |
| ENST00000219476.9:c.5168C>A MANE Select | ENSP00000219476.3:p.Ser1723Ter | |
| ENST00000350773.9:c.5099C>A | ENSP00000344383.4:p.Ser1700Ter | |
| ENST00000401874.7:c.4967C>A | ENSP00000384468.2:p.Ser1656Ter | |
| ENST00000568454.6:c.5000C>A | ENSP00000454487.1:p.Ser1667Ter | |
| ENST00000569110.2:c.1391C>A | ||
| ENST00000569930.2:n.3050C>A | ||
| ENST00000642365.1:c.3822C>A | ||
| ENST00000642561.1:c.5032-5C>A | ENSP00000495099.1:n.5032-5C>A | |
| ENST00000642791.1:n.765C>A | ||
| ENST00000642797.1:c.4970C>A | ENSP00000493846.1:p.Ser1657Ter | |
| ENST00000642936.1:c.5036C>A | ENSP00000494514.1:p.Ser1679Ter | |
| ENST00000643088.1:c.4961C>A | ENSP00000494747.1:p.Ser1654Ter | |
| ENST00000643426.1:n.2816C>A | ||
| ENST00000643946.1:c.5093C>A | ENSP00000495927.1:p.Ser1698Ter | |
| ENST00000644043.1:c.5039C>A | ENSP00000496262.1:p.Ser1680Ter | |
| ENST00000644329.1:c.5054C>A | ENSP00000496611.1:p.Ser1685Ter | |
| ENST00000644335.1:c.4964C>A | ENSP00000496317.1:p.Ser1655Ter | |
| ENST00000644399.1:c.5089C>A | ||
| ENST00000645024.1:n.3252C>A | ||
| ENST00000646388.1:c.5162C>A | ENSP00000495921.1:p.Ser1721Ter | |
| ENST00000646634.1:n.3983C>A | ||
| ENST00000646674.1:n.2420C>A | ||
| ENST00000647042.1:n.2391C>A | ||
| ENST00000647180.1:n.2281C>A | ||
| ENST00000219476.7:c.5168C>A | ENSP00000219476.3:p.Ser1723Ter | |
| ENST00000350773.8:c.5099C>A | ENSP00000344383.4:p.Ser1700Ter | |
| ENST00000382538.10:c.4823C>A | ENSP00000371978.6:p.Ser1608Ter | |
| ENST00000401874.6:c.4967C>A | ENSP00000384468.2:p.Ser1656Ter | |
| ENST00000439117.6:c.*4335C>A | ENSP00000406980.2:n.*4335C>A | |
| ENST00000439673.6:c.4859C>A | ENSP00000399232.2:p.Ser1620Ter | |
| ENST00000497886.5:n.2891C>A | ||
| ENST00000568454.5:c.5000C>A | ENSP00000454487.1:p.Ser1667Ter | |
| ENST00000569110.1:c.1350C>A | ||
| ENST00000569930.1:n.2283C>A | ||
| NM_000548.3:c.5168C>A , LRG_487t1:c.5168C>A | NP_000539.2:p.Ser1723Ter | |
| NM_001077183.1:c.4967C>A | NP_001070651.1:p.Ser1656Ter | |
| NM_001114382.1:c.5099C>A | NP_001107854.1:p.Ser1700Ter | |
| XM_005255529.3:c.5039C>A | XP_005255586.2:p.Ser1680Ter | |
| XM_005255531.3:c.4970C>A | XP_005255588.2:p.Ser1657Ter | |
| XM_011522636.1:c.5222C>A | XP_011520938.1:p.Ser1741Ter | |
| XM_011522637.1:c.5219C>A | XP_011520939.1:p.Ser1740Ter | |
| XM_011522638.1:c.5111C>A | XP_011520940.1:p.Ser1704Ter | |
| XM_011522639.1:c.5093C>A | XP_011520941.1:p.Ser1698Ter | |
| XM_011522640.1:c.5090C>A | XP_011520942.1:p.Ser1697Ter | |
| XM_011522641.1:c.4859C>A | XP_011520943.1:p.Ser1620Ter | |
| NM_000548.4:c.5168C>A | NP_000539.2:p.Ser1723Ter | |
| NM_001077183.2:c.4967C>A | NP_001070651.1:p.Ser1656Ter | |
| NM_001114382.2:c.5099C>A | NP_001107854.1:p.Ser1700Ter | |
| NM_001318827.1:c.4859C>A | NP_001305756.1:p.Ser1620Ter | |
| NM_001318829.1:c.4823C>A | NP_001305758.1:p.Ser1608Ter | |
| NM_001318831.1:c.4436C>A | NP_001305760.1:p.Ser1479Ter | |
| NM_001318832.1:c.5000C>A | NP_001305761.1:p.Ser1667Ter | |
| NM_001363528.1:c.4970C>A | NP_001350457.1:p.Ser1657Ter | |
| NM_021055.2:c.5039C>A | NP_066399.2:p.Ser1680Ter | |
| XM_005255531.4:c.4970C>A | XP_005255588.2:p.Ser1657Ter | |
| XM_011522636.2:c.5222C>A | XP_011520938.1:p.Ser1741Ter | |
| XM_011522637.2:c.5219C>A | XP_011520939.1:p.Ser1740Ter | |
| XM_011522638.2:c.5384C>A | XP_011520940.2:p.Ser1795Ter | |
| XM_011522639.2:c.5093C>A | XP_011520941.1:p.Ser1698Ter | |
| XM_011522640.2:c.5090C>A | XP_011520942.1:p.Ser1697Ter | |
| XM_017023615.1:c.5165C>A | XP_016879104.1:p.Ser1722Ter | |
| XM_017023616.1:c.5036C>A | XP_016879105.1:p.Ser1679Ter | |
| XM_017023617.1:c.5132C>A | XP_016879106.1:p.Ser1711Ter | |
| XM_017023618.1:c.3878C>A | XP_016879107.1:p.Ser1293Ter | |
| XM_024450413.1:c.5054C>A | XP_024306181.1:p.Ser1685Ter | |
| NM_000548.5:c.5168C>A MANE Select | NP_000539.2:p.Ser1723Ter | |
| NM_001370404.1:c.5036C>A | NP_001357333.1:p.Ser1679Ter | |
| NM_001370405.1:c.5032-5C>A | NP_001357334.1:n.5032-5C>A | |
| NM_001077183.3:c.4967C>A | NP_001070651.1:p.Ser1656Ter | |
| NM_001114382.3:c.5099C>A | NP_001107854.1:p.Ser1700Ter | |
| NM_001318827.2:c.4859C>A | NP_001305756.1:p.Ser1620Ter | |
| NM_001318829.2:c.4823C>A | NP_001305758.1:p.Ser1608Ter | |
| NM_001318831.2:c.4436C>A | NP_001305760.1:p.Ser1479Ter | |
| NM_001318832.2:c.5000C>A | NP_001305761.1:p.Ser1667Ter | |
| NM_001363528.2:c.4970C>A | NP_001350457.1:p.Ser1657Ter | |
| NM_021055.3:c.5039C>A | NP_066399.2:p.Ser1680Ter |