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.2084248G= , CM000678.2:g.2084248G= | GRCh38 |
| NC_000016.9:g.2134249G= , CM000678.1:g.2134249G= | GRCh37 |
| NC_000016.8:g.2074250G= | NCBI36 |
| NG_005895.1:g.39943G= , LRG_487:g.39943G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*2375G= | ENSP00000455997.2:n.*2375G= | |
| ENST00000642206.2:c.3873G= | ENSP00000495146.2:p.Gln1291= | |
| ENST00000642365.2:c.4023G= | ENSP00000495459.2:p.Gln1341= | |
| ENST00000644417.2:c.*4406G= | ENSP00000493912.2:n.*4406G= | |
| ENST00000646464.2:c.*6775G= | ENSP00000496610.2:n.*6775G= | |
| ENST00000219476.9:c.4026G= MANE Select | ENSP00000219476.3:p.Gln1342= | |
| ENST00000350773.9:c.3957G= | ENSP00000344383.4:p.Gln1319= | |
| ENST00000401874.7:c.3825G= | ENSP00000384468.2:p.Gln1275= | |
| ENST00000568454.6:c.3858G= | ENSP00000454487.1:p.Gln1286= | |
| ENST00000569110.2:c.262G= | ||
| ENST00000569930.2:n.1908G= | ||
| ENST00000642365.1:c.2680G= | ||
| ENST00000642561.1:c.3897G= | ENSP00000495099.1:p.Gln1299= | |
| ENST00000642728.1:n.208G= | ||
| ENST00000642797.1:c.3828G= | ENSP00000493846.1:p.Gln1276= | |
| ENST00000642936.1:c.3894G= | ENSP00000494514.1:p.Gln1298= | |
| ENST00000643088.1:c.3825G= | ENSP00000494747.1:p.Gln1275= | |
| ENST00000643177.1:n.40G= | ||
| ENST00000643426.1:n.1674G= | ||
| ENST00000643533.1:n.467G= | ||
| ENST00000643946.1:c.3957G= | ENSP00000495927.1:p.Gln1319= | |
| ENST00000644043.1:c.3897G= | ENSP00000496262.1:p.Gln1299= | |
| ENST00000644329.1:c.3825G= | ENSP00000496611.1:p.Gln1275= | |
| ENST00000644335.1:c.3828G= | ENSP00000496317.1:p.Gln1276= | |
| ENST00000644399.1:c.3947G= | ||
| ENST00000645024.1:n.2110G= | ||
| ENST00000645186.1:c.269G= | ||
| ENST00000646388.1:c.4026G= | ENSP00000495921.1:p.Gln1342= | |
| ENST00000646634.1:n.2841G= | ||
| ENST00000646674.1:n.1278G= | ||
| ENST00000647042.1:n.1249G= | ||
| ENST00000647180.1:n.1139G= | ||
| ENST00000219476.7:c.4026G= | ENSP00000219476.3:p.Gln1342= | |
| ENST00000350773.8:c.3957G= | ENSP00000344383.4:p.Gln1319= | |
| ENST00000382538.10:c.3681G= | ENSP00000371978.6:p.Gln1227= | |
| ENST00000401874.6:c.3825G= | ENSP00000384468.2:p.Gln1275= | |
| ENST00000439117.6:c.*3193G= | ENSP00000406980.2:n.*3193G= | |
| ENST00000439673.6:c.3717G= | ENSP00000399232.2:p.Gln1239= | |
| ENST00000497886.5:n.1784G= | ||
| ENST00000568454.5:c.3858G= | ENSP00000454487.1:p.Gln1286= | |
| ENST00000569110.1:c.208G= | ||
| ENST00000569930.1:n.1141G= | ||
| NM_000548.3:c.4026G= , LRG_487t1:c.4026G= | NP_000539.2:p.Gln1342= | |
| NM_001077183.1:c.3825G= | NP_001070651.1:p.Gln1275= | |
| NM_001114382.1:c.3957G= | NP_001107854.1:p.Gln1319= | |
| XM_005255529.3:c.3897G= | XP_005255586.2:p.Gln1299= | |
| XM_005255531.3:c.3828G= | XP_005255588.2:p.Gln1276= | |
| XM_011522636.1:c.4080G= | XP_011520938.1:p.Gln1360= | |
| XM_011522637.1:c.4077G= | XP_011520939.1:p.Gln1359= | |
| XM_011522638.1:c.3969G= | XP_011520940.1:p.Gln1323= | |
| XM_011522639.1:c.3951G= | XP_011520941.1:p.Gln1317= | |
| XM_011522640.1:c.3948G= | XP_011520942.1:p.Gln1316= | |
| XM_011522641.1:c.3717G= | XP_011520943.1:p.Gln1239= | |
| NM_000548.4:c.4026G= | NP_000539.2:p.Gln1342= | |
| NM_001077183.2:c.3825G= | NP_001070651.1:p.Gln1275= | |
| NM_001114382.2:c.3957G= | NP_001107854.1:p.Gln1319= | |
| NM_001318827.1:c.3717G= | NP_001305756.1:p.Gln1239= | |
| NM_001318829.1:c.3681G= | NP_001305758.1:p.Gln1227= | |
| NM_001318831.1:c.3294G= | NP_001305760.1:p.Gln1098= | |
| NM_001318832.1:c.3858G= | NP_001305761.1:p.Gln1286= | |
| NM_001363528.1:c.3828G= | NP_001350457.1:p.Gln1276= | |
| NM_021055.2:c.3897G= | NP_066399.2:p.Gln1299= | |
| XM_005255531.4:c.3828G= | XP_005255588.2:p.Gln1276= | |
| XM_011522636.2:c.4080G= | XP_011520938.1:p.Gln1360= | |
| XM_011522637.2:c.4077G= | XP_011520939.1:p.Gln1359= | |
| XM_011522638.2:c.4242G= | XP_011520940.2:p.Gln1414= | |
| XM_011522639.2:c.3951G= | XP_011520941.1:p.Gln1317= | |
| XM_011522640.2:c.3948G= | XP_011520942.1:p.Gln1316= | |
| XM_017023615.1:c.4023G= | XP_016879104.1:p.Gln1341= | |
| XM_017023616.1:c.3894G= | XP_016879105.1:p.Gln1298= | |
| XM_017023617.1:c.3990G= | XP_016879106.1:p.Gln1330= | |
| XM_017023618.1:c.2736G= | XP_016879107.1:p.Gln912= | |
| XM_024450413.1:c.3825G= | XP_024306181.1:p.Gln1275= | |
| NM_000548.5:c.4026G= MANE Select | NP_000539.2:p.Gln1342= | |
| NM_001370404.1:c.3894G= | NP_001357333.1:p.Gln1298= | |
| NM_001370405.1:c.3897G= | NP_001357334.1:p.Gln1299= | |
| NM_001077183.3:c.3825G= | NP_001070651.1:p.Gln1275= | |
| NM_001114382.3:c.3957G= | NP_001107854.1:p.Gln1319= | |
| NM_001318827.2:c.3717G= | NP_001305756.1:p.Gln1239= | |
| NM_001318829.2:c.3681G= | NP_001305758.1:p.Gln1227= | |
| NM_001318831.2:c.3294G= | NP_001305760.1:p.Gln1098= | |
| NM_001318832.2:c.3858G= | NP_001305761.1:p.Gln1286= | |
| NM_001363528.2:c.3828G= | NP_001350457.1:p.Gln1276= | |
| NM_021055.3:c.3897G= | NP_066399.2:p.Gln1299= |