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.2086376C= , CM000678.2:g.2086376C= | GRCh38 |
| NC_000016.9:g.2136377C= , CM000678.1:g.2136377C= | GRCh37 |
| NC_000016.8:g.2076378C= | NCBI36 |
| NG_005895.1:g.42071C= , LRG_487:g.42071C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3195C= | ENSP00000455997.2:n.*3195C= | |
| ENST00000642206.2:c.4693C= | ENSP00000495146.2:p.Gln1565= | |
| ENST00000642365.2:c.4843C= | ENSP00000495459.2:p.Gln1615= | |
| ENST00000644417.2:c.*5359C= | ENSP00000493912.2:n.*5359C= | |
| ENST00000646464.2:c.*7595C= | ENSP00000496610.2:n.*7595C= | |
| ENST00000219476.9:c.4846C= MANE Select | ENSP00000219476.3:p.Gln1616= | |
| ENST00000350773.9:c.4777C= | ENSP00000344383.4:p.Gln1593= | |
| ENST00000401874.7:c.4645C= | ENSP00000384468.2:p.Gln1549= | |
| ENST00000568454.6:c.4678C= | ENSP00000454487.1:p.Gln1560= | |
| ENST00000569110.2:c.1069C= | ||
| ENST00000569930.2:n.2728C= | ||
| ENST00000642365.1:c.3500C= | ||
| ENST00000642561.1:c.4717C= | ENSP00000495099.1:p.Gln1573= | |
| ENST00000642728.1:n.1028C= | ||
| ENST00000642791.1:n.443C= | ||
| ENST00000642797.1:c.4648C= | ENSP00000493846.1:p.Gln1550= | |
| ENST00000642936.1:c.4714C= | ENSP00000494514.1:p.Gln1572= | |
| ENST00000643088.1:c.4639C= | ENSP00000494747.1:p.Gln1547= | |
| ENST00000643177.1:n.860C= | ||
| ENST00000643426.1:n.2494C= | ||
| ENST00000643946.1:c.4771C= | ENSP00000495927.1:p.Gln1591= | |
| ENST00000644043.1:c.4717C= | ENSP00000496262.1:p.Gln1573= | |
| ENST00000644278.1:n.328C= | ||
| ENST00000644329.1:c.4645C= | ENSP00000496611.1:p.Gln1549= | |
| ENST00000644335.1:c.4642C= | ENSP00000496317.1:p.Gln1548= | |
| ENST00000644399.1:c.4767C= | ||
| ENST00000645024.1:n.2930C= | ||
| ENST00000646388.1:c.4840C= | ENSP00000495921.1:p.Gln1614= | |
| ENST00000646557.1:n.7C= | ||
| ENST00000646634.1:n.3661C= | ||
| ENST00000646674.1:n.2098C= | ||
| ENST00000647042.1:n.2069C= | ||
| ENST00000647180.1:n.1959C= | ||
| ENST00000219476.7:c.4846C= | ENSP00000219476.3:p.Gln1616= | |
| ENST00000350773.8:c.4777C= | ENSP00000344383.4:p.Gln1593= | |
| ENST00000382538.10:c.4501C= | ENSP00000371978.6:p.Gln1501= | |
| ENST00000401874.6:c.4645C= | ENSP00000384468.2:p.Gln1549= | |
| ENST00000439117.6:c.*4013C= | ENSP00000406980.2:n.*4013C= | |
| ENST00000439673.6:c.4537C= | ENSP00000399232.2:p.Gln1513= | |
| ENST00000497886.5:n.2604C= | ||
| ENST00000568454.5:c.4678C= | ENSP00000454487.1:p.Gln1560= | |
| ENST00000569110.1:c.1028C= | ||
| ENST00000569930.1:n.1961C= | ||
| NM_000548.3:c.4846C= , LRG_487t1:c.4846C= | NP_000539.2:p.Gln1616= | |
| NM_001077183.1:c.4645C= | NP_001070651.1:p.Gln1549= | |
| NM_001114382.1:c.4777C= | NP_001107854.1:p.Gln1593= | |
| XM_005255529.3:c.4717C= | XP_005255586.2:p.Gln1573= | |
| XM_005255531.3:c.4648C= | XP_005255588.2:p.Gln1550= | |
| XM_011522636.1:c.4900C= | XP_011520938.1:p.Gln1634= | |
| XM_011522637.1:c.4897C= | XP_011520939.1:p.Gln1633= | |
| XM_011522638.1:c.4789C= | XP_011520940.1:p.Gln1597= | |
| XM_011522639.1:c.4771C= | XP_011520941.1:p.Gln1591= | |
| XM_011522640.1:c.4768C= | XP_011520942.1:p.Gln1590= | |
| XM_011522641.1:c.4537C= | XP_011520943.1:p.Gln1513= | |
| NM_000548.4:c.4846C= | NP_000539.2:p.Gln1616= | |
| NM_001077183.2:c.4645C= | NP_001070651.1:p.Gln1549= | |
| NM_001114382.2:c.4777C= | NP_001107854.1:p.Gln1593= | |
| NM_001318827.1:c.4537C= | NP_001305756.1:p.Gln1513= | |
| NM_001318829.1:c.4501C= | NP_001305758.1:p.Gln1501= | |
| NM_001318831.1:c.4114C= | NP_001305760.1:p.Gln1372= | |
| NM_001318832.1:c.4678C= | NP_001305761.1:p.Gln1560= | |
| NM_001363528.1:c.4648C= | NP_001350457.1:p.Gln1550= | |
| NM_021055.2:c.4717C= | NP_066399.2:p.Gln1573= | |
| XM_005255531.4:c.4648C= | XP_005255588.2:p.Gln1550= | |
| XM_011522636.2:c.4900C= | XP_011520938.1:p.Gln1634= | |
| XM_011522637.2:c.4897C= | XP_011520939.1:p.Gln1633= | |
| XM_011522638.2:c.5062C= | XP_011520940.2:p.Gln1688= | |
| XM_011522639.2:c.4771C= | XP_011520941.1:p.Gln1591= | |
| XM_011522640.2:c.4768C= | XP_011520942.1:p.Gln1590= | |
| XM_017023615.1:c.4843C= | XP_016879104.1:p.Gln1615= | |
| XM_017023616.1:c.4714C= | XP_016879105.1:p.Gln1572= | |
| XM_017023617.1:c.4810C= | XP_016879106.1:p.Gln1604= | |
| XM_017023618.1:c.3556C= | XP_016879107.1:p.Gln1186= | |
| XM_024450413.1:c.4645C= | XP_024306181.1:p.Gln1549= | |
| NM_000548.5:c.4846C= MANE Select | NP_000539.2:p.Gln1616= | |
| NM_001370404.1:c.4714C= | NP_001357333.1:p.Gln1572= | |
| NM_001370405.1:c.4717C= | NP_001357334.1:p.Gln1573= | |
| NM_001077183.3:c.4645C= | NP_001070651.1:p.Gln1549= | |
| NM_001114382.3:c.4777C= | NP_001107854.1:p.Gln1593= | |
| NM_001318827.2:c.4537C= | NP_001305756.1:p.Gln1513= | |
| NM_001318829.2:c.4501C= | NP_001305758.1:p.Gln1501= | |
| NM_001318831.2:c.4114C= | NP_001305760.1:p.Gln1372= | |
| NM_001318832.2:c.4678C= | NP_001305761.1:p.Gln1560= | |
| NM_001363528.2:c.4648C= | NP_001350457.1:p.Gln1550= | |
| NM_021055.3:c.4717C= | NP_066399.2:p.Gln1573= |