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.2088455G= , CM000678.2:g.2088455G= | GRCh38 |
| NC_000016.9:g.2138456G= , CM000678.1:g.2138456G= | GRCh37 |
| NC_000016.8:g.2078457G= | NCBI36 |
| NG_005895.1:g.44150G= , LRG_487:g.44150G= | |
| NG_008617.1:g.54766C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3618G= | ENSP00000455997.2:n.*3618G= | |
| ENST00000642206.2:c.5116G= | ENSP00000495146.2:p.Glu1706= | |
| ENST00000642365.2:c.5266G= | ENSP00000495459.2:p.Glu1756= | |
| ENST00000644417.2:c.*5782G= | ENSP00000493912.2:n.*5782G= | |
| ENST00000646464.2:c.*8018G= | ENSP00000496610.2:n.*8018G= | |
| ENST00000219476.9:c.5269G= MANE Select | ENSP00000219476.3:p.Glu1757= | |
| ENST00000350773.9:c.5200G= | ENSP00000344383.4:p.Glu1734= | |
| ENST00000401874.7:c.5068G= | ENSP00000384468.2:p.Glu1690= | |
| ENST00000568454.6:c.5101G= | ENSP00000454487.1:p.Glu1701= | |
| ENST00000569110.2:c.1492G= | ||
| ENST00000569930.2:n.3151G= | ||
| ENST00000642365.1:c.3923G= | ||
| ENST00000642561.1:c.5128G= | ENSP00000495099.1:p.Glu1710= | |
| ENST00000642791.1:n.866G= | ||
| ENST00000642797.1:c.5071G= | ENSP00000493846.1:p.Glu1691= | |
| ENST00000642936.1:c.5137G= | ENSP00000494514.1:p.Glu1713= | |
| ENST00000643088.1:c.5062G= | ENSP00000494747.1:p.Glu1688= | |
| ENST00000643426.1:n.2917G= | ||
| ENST00000643946.1:c.5194G= | ENSP00000495927.1:p.Glu1732= | |
| ENST00000644043.1:c.5140G= | ENSP00000496262.1:p.Glu1714= | |
| ENST00000644329.1:c.5155G= | ENSP00000496611.1:p.Glu1719= | |
| ENST00000644335.1:c.5065G= | ENSP00000496317.1:p.Glu1689= | |
| ENST00000644399.1:c.5190G= | ||
| ENST00000645024.1:n.3353G= | ||
| ENST00000646388.1:c.5263G= | ENSP00000495921.1:p.Glu1755= | |
| ENST00000646634.1:n.4084G= | ||
| ENST00000646674.1:n.2521G= | ||
| ENST00000647042.1:n.2492G= | ||
| ENST00000647180.1:n.2382G= | ||
| ENST00000219476.7:c.5269G= | ENSP00000219476.3:p.Glu1757= | |
| ENST00000350773.8:c.5200G= | ENSP00000344383.4:p.Glu1734= | |
| ENST00000382538.10:c.4924G= | ENSP00000371978.6:p.Glu1642= | |
| ENST00000401874.6:c.5068G= | ENSP00000384468.2:p.Glu1690= | |
| ENST00000439117.6:c.*4436G= | ENSP00000406980.2:n.*4436G= | |
| ENST00000439673.6:c.4960G= | ENSP00000399232.2:p.Glu1654= | |
| ENST00000497886.5:n.2992G= | ||
| ENST00000568454.5:c.5101G= | ENSP00000454487.1:p.Glu1701= | |
| ENST00000569110.1:c.1451G= | ||
| ENST00000569930.1:n.2384G= | ||
| NM_000548.3:c.5269G= , LRG_487t1:c.5269G= | NP_000539.2:p.Glu1757= | |
| NM_001077183.1:c.5068G= | NP_001070651.1:p.Glu1690= | |
| NM_001114382.1:c.5200G= | NP_001107854.1:p.Glu1734= | |
| XM_005255529.3:c.5140G= | XP_005255586.2:p.Glu1714= | |
| XM_005255531.3:c.5071G= | XP_005255588.2:p.Glu1691= | |
| XM_011522636.1:c.5323G= | XP_011520938.1:p.Glu1775= | |
| XM_011522637.1:c.5320G= | XP_011520939.1:p.Glu1774= | |
| XM_011522638.1:c.5212G= | XP_011520940.1:p.Glu1738= | |
| XM_011522639.1:c.5194G= | XP_011520941.1:p.Glu1732= | |
| XM_011522640.1:c.5191G= | XP_011520942.1:p.Glu1731= | |
| XM_011522641.1:c.4960G= | XP_011520943.1:p.Glu1654= | |
| NM_000548.4:c.5269G= | NP_000539.2:p.Glu1757= | |
| NM_001077183.2:c.5068G= | NP_001070651.1:p.Glu1690= | |
| NM_001114382.2:c.5200G= | NP_001107854.1:p.Glu1734= | |
| NM_001318827.1:c.4960G= | NP_001305756.1:p.Glu1654= | |
| NM_001318829.1:c.4924G= | NP_001305758.1:p.Glu1642= | |
| NM_001318831.1:c.4537G= | NP_001305760.1:p.Glu1513= | |
| NM_001318832.1:c.5101G= | NP_001305761.1:p.Glu1701= | |
| NM_001363528.1:c.5071G= | NP_001350457.1:p.Glu1691= | |
| NM_021055.2:c.5140G= | NP_066399.2:p.Glu1714= | |
| XM_005255531.4:c.5071G= | XP_005255588.2:p.Glu1691= | |
| XM_011522636.2:c.5323G= | XP_011520938.1:p.Glu1775= | |
| XM_011522637.2:c.5320G= | XP_011520939.1:p.Glu1774= | |
| XM_011522638.2:c.5485G= | XP_011520940.2:p.Glu1829= | |
| XM_011522639.2:c.5194G= | XP_011520941.1:p.Glu1732= | |
| XM_011522640.2:c.5191G= | XP_011520942.1:p.Glu1731= | |
| XM_017023615.1:c.5266G= | XP_016879104.1:p.Glu1756= | |
| XM_017023616.1:c.5137G= | XP_016879105.1:p.Glu1713= | |
| XM_017023617.1:c.5233G= | XP_016879106.1:p.Glu1745= | |
| XM_017023618.1:c.3979G= | XP_016879107.1:p.Glu1327= | |
| XM_024450413.1:c.5155G= | XP_024306181.1:p.Glu1719= | |
| NM_000548.5:c.5269G= MANE Select | NP_000539.2:p.Glu1757= | |
| NM_001370404.1:c.5137G= | NP_001357333.1:p.Glu1713= | |
| NM_001370405.1:c.5128G= | NP_001357334.1:p.Glu1710= | |
| NM_001077183.3:c.5068G= | NP_001070651.1:p.Glu1690= | |
| NM_001114382.3:c.5200G= | NP_001107854.1:p.Glu1734= | |
| NM_001318827.2:c.4960G= | NP_001305756.1:p.Glu1654= | |
| NM_001318829.2:c.4924G= | NP_001305758.1:p.Glu1642= | |
| NM_001318831.2:c.4537G= | NP_001305760.1:p.Glu1513= | |
| NM_001318832.2:c.5101G= | NP_001305761.1:p.Glu1701= | |
| NM_001363528.2:c.5071G= | NP_001350457.1:p.Glu1691= | |
| NM_021055.3:c.5140G= | NP_066399.2:p.Glu1714= |