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.2084650G= , CM000678.2:g.2084650G= | GRCh38 |
| NC_000016.9:g.2134651G= , CM000678.1:g.2134651G= | GRCh37 |
| NC_000016.8:g.2074652G= | NCBI36 |
| NG_005895.1:g.40345G= , LRG_487:g.40345G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2777G= | ENSP00000455997.2:n.*2777G= | |
| ENST00000642206.2:c.4275G= | ENSP00000495146.2:p.Glu1425= | |
| ENST00000642365.2:c.4425G= | ENSP00000495459.2:p.Glu1475= | |
| ENST00000644417.2:c.*4808G= | ENSP00000493912.2:n.*4808G= | |
| ENST00000646464.2:c.*7177G= | ENSP00000496610.2:n.*7177G= | |
| ENST00000219476.9:c.4428G= MANE Select | ENSP00000219476.3:p.Glu1476= | |
| ENST00000350773.9:c.4359G= | ENSP00000344383.4:p.Glu1453= | |
| ENST00000401874.7:c.4227G= | ENSP00000384468.2:p.Glu1409= | |
| ENST00000568454.6:c.4260G= | ENSP00000454487.1:p.Glu1420= | |
| ENST00000569110.2:c.664G= | ||
| ENST00000569930.2:n.2310G= | ||
| ENST00000642365.1:c.3082G= | ||
| ENST00000642561.1:c.4299G= | ENSP00000495099.1:p.Glu1433= | |
| ENST00000642728.1:n.610G= | ||
| ENST00000642797.1:c.4230G= | ENSP00000493846.1:p.Glu1410= | |
| ENST00000642936.1:c.4296G= | ENSP00000494514.1:p.Glu1432= | |
| ENST00000643088.1:c.4227G= | ENSP00000494747.1:p.Glu1409= | |
| ENST00000643177.1:n.442G= | ||
| ENST00000643426.1:n.2076G= | ||
| ENST00000643946.1:c.4359G= | ENSP00000495927.1:p.Glu1453= | |
| ENST00000644043.1:c.4299G= | ENSP00000496262.1:p.Glu1433= | |
| ENST00000644329.1:c.4227G= | ENSP00000496611.1:p.Glu1409= | |
| ENST00000644335.1:c.4230G= | ENSP00000496317.1:p.Glu1410= | |
| ENST00000644399.1:c.4349G= | ||
| ENST00000645024.1:n.2512G= | ||
| ENST00000646388.1:c.4428G= | ENSP00000495921.1:p.Glu1476= | |
| ENST00000646634.1:n.3243G= | ||
| ENST00000646674.1:n.1680G= | ||
| ENST00000647042.1:n.1651G= | ||
| ENST00000647180.1:n.1541G= | ||
| ENST00000219476.7:c.4428G= | ENSP00000219476.3:p.Glu1476= | |
| ENST00000350773.8:c.4359G= | ENSP00000344383.4:p.Glu1453= | |
| ENST00000382538.10:c.4083G= | ENSP00000371978.6:p.Glu1361= | |
| ENST00000401874.6:c.4227G= | ENSP00000384468.2:p.Glu1409= | |
| ENST00000439117.6:c.*3595G= | ENSP00000406980.2:n.*3595G= | |
| ENST00000439673.6:c.4119G= | ENSP00000399232.2:p.Glu1373= | |
| ENST00000497886.5:n.2186G= | ||
| ENST00000568454.5:c.4260G= | ENSP00000454487.1:p.Glu1420= | |
| ENST00000569110.1:c.610G= | ||
| ENST00000569930.1:n.1543G= | ||
| NM_000548.3:c.4428G= , LRG_487t1:c.4428G= | NP_000539.2:p.Glu1476= | |
| NM_001077183.1:c.4227G= | NP_001070651.1:p.Glu1409= | |
| NM_001114382.1:c.4359G= | NP_001107854.1:p.Glu1453= | |
| XM_005255529.3:c.4299G= | XP_005255586.2:p.Glu1433= | |
| XM_005255531.3:c.4230G= | XP_005255588.2:p.Glu1410= | |
| XM_011522636.1:c.4482G= | XP_011520938.1:p.Glu1494= | |
| XM_011522637.1:c.4479G= | XP_011520939.1:p.Glu1493= | |
| XM_011522638.1:c.4371G= | XP_011520940.1:p.Glu1457= | |
| XM_011522639.1:c.4353G= | XP_011520941.1:p.Glu1451= | |
| XM_011522640.1:c.4350G= | XP_011520942.1:p.Glu1450= | |
| XM_011522641.1:c.4119G= | XP_011520943.1:p.Glu1373= | |
| NM_000548.4:c.4428G= | NP_000539.2:p.Glu1476= | |
| NM_001077183.2:c.4227G= | NP_001070651.1:p.Glu1409= | |
| NM_001114382.2:c.4359G= | NP_001107854.1:p.Glu1453= | |
| NM_001318827.1:c.4119G= | NP_001305756.1:p.Glu1373= | |
| NM_001318829.1:c.4083G= | NP_001305758.1:p.Glu1361= | |
| NM_001318831.1:c.3696G= | NP_001305760.1:p.Glu1232= | |
| NM_001318832.1:c.4260G= | NP_001305761.1:p.Glu1420= | |
| NM_001363528.1:c.4230G= | NP_001350457.1:p.Glu1410= | |
| NM_021055.2:c.4299G= | NP_066399.2:p.Glu1433= | |
| XM_005255531.4:c.4230G= | XP_005255588.2:p.Glu1410= | |
| XM_011522636.2:c.4482G= | XP_011520938.1:p.Glu1494= | |
| XM_011522637.2:c.4479G= | XP_011520939.1:p.Glu1493= | |
| XM_011522638.2:c.4644G= | XP_011520940.2:p.Glu1548= | |
| XM_011522639.2:c.4353G= | XP_011520941.1:p.Glu1451= | |
| XM_011522640.2:c.4350G= | XP_011520942.1:p.Glu1450= | |
| XM_017023615.1:c.4425G= | XP_016879104.1:p.Glu1475= | |
| XM_017023616.1:c.4296G= | XP_016879105.1:p.Glu1432= | |
| XM_017023617.1:c.4392G= | XP_016879106.1:p.Glu1464= | |
| XM_017023618.1:c.3138G= | XP_016879107.1:p.Glu1046= | |
| XM_024450413.1:c.4227G= | XP_024306181.1:p.Glu1409= | |
| NM_000548.5:c.4428G= MANE Select | NP_000539.2:p.Glu1476= | |
| NM_001370404.1:c.4296G= | NP_001357333.1:p.Glu1432= | |
| NM_001370405.1:c.4299G= | NP_001357334.1:p.Glu1433= | |
| NM_001077183.3:c.4227G= | NP_001070651.1:p.Glu1409= | |
| NM_001114382.3:c.4359G= | NP_001107854.1:p.Glu1453= | |
| NM_001318827.2:c.4119G= | NP_001305756.1:p.Glu1373= | |
| NM_001318829.2:c.4083G= | NP_001305758.1:p.Glu1361= | |
| NM_001318831.2:c.3696G= | NP_001305760.1:p.Glu1232= | |
| NM_001318832.2:c.4260G= | NP_001305761.1:p.Glu1420= | |
| NM_001363528.2:c.4230G= | NP_001350457.1:p.Glu1410= | |
| NM_021055.3:c.4299G= | NP_066399.2:p.Glu1433= |