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.2088286G= , CM000678.2:g.2088286G= | GRCh38 |
| NC_000016.9:g.2138287G= , CM000678.1:g.2138287G= | GRCh37 |
| NC_000016.8:g.2078288G= | NCBI36 |
| NG_005895.1:g.43981G= , LRG_487:g.43981G= | |
| NG_008617.1:g.54935C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3569G= | ENSP00000455997.2:n.*3569G= | |
| ENST00000642206.2:c.5067G= | ENSP00000495146.2:p.Trp1689= | |
| ENST00000642365.2:c.5217G= | ENSP00000495459.2:p.Trp1739= | |
| ENST00000644417.2:c.*5733G= | ENSP00000493912.2:n.*5733G= | |
| ENST00000646464.2:c.*7969G= | ENSP00000496610.2:n.*7969G= | |
| ENST00000219476.9:c.5220G= MANE Select | ENSP00000219476.3:p.Trp1740= | |
| ENST00000350773.9:c.5151G= | ENSP00000344383.4:p.Trp1717= | |
| ENST00000401874.7:c.5019G= | ENSP00000384468.2:p.Trp1673= | |
| ENST00000568454.6:c.5052G= | ENSP00000454487.1:p.Trp1684= | |
| ENST00000569110.2:c.1443G= | ||
| ENST00000569930.2:n.3102G= | ||
| ENST00000642365.1:c.3874G= | ||
| ENST00000642561.1:c.5079G= | ENSP00000495099.1:p.Trp1693= | |
| ENST00000642791.1:n.817G= | ||
| ENST00000642797.1:c.5022G= | ENSP00000493846.1:p.Trp1674= | |
| ENST00000642936.1:c.5088G= | ENSP00000494514.1:p.Trp1696= | |
| ENST00000643088.1:c.5013G= | ENSP00000494747.1:p.Trp1671= | |
| ENST00000643426.1:n.2868G= | ||
| ENST00000643946.1:c.5145G= | ENSP00000495927.1:p.Trp1715= | |
| ENST00000644043.1:c.5091G= | ENSP00000496262.1:p.Trp1697= | |
| ENST00000644329.1:c.5106G= | ENSP00000496611.1:p.Trp1702= | |
| ENST00000644335.1:c.5016G= | ENSP00000496317.1:p.Trp1672= | |
| ENST00000644399.1:c.5141G= | ||
| ENST00000645024.1:n.3304G= | ||
| ENST00000646388.1:c.5214G= | ENSP00000495921.1:p.Trp1738= | |
| ENST00000646634.1:n.4035G= | ||
| ENST00000646674.1:n.2472G= | ||
| ENST00000647042.1:n.2443G= | ||
| ENST00000647180.1:n.2333G= | ||
| ENST00000219476.7:c.5220G= | ENSP00000219476.3:p.Trp1740= | |
| ENST00000350773.8:c.5151G= | ENSP00000344383.4:p.Trp1717= | |
| ENST00000382538.10:c.4875G= | ENSP00000371978.6:p.Trp1625= | |
| ENST00000401874.6:c.5019G= | ENSP00000384468.2:p.Trp1673= | |
| ENST00000439117.6:c.*4387G= | ENSP00000406980.2:n.*4387G= | |
| ENST00000439673.6:c.4911G= | ENSP00000399232.2:p.Trp1637= | |
| ENST00000497886.5:n.2943G= | ||
| ENST00000568454.5:c.5052G= | ENSP00000454487.1:p.Trp1684= | |
| ENST00000569110.1:c.1402G= | ||
| ENST00000569930.1:n.2335G= | ||
| NM_000548.3:c.5220G= , LRG_487t1:c.5220G= | NP_000539.2:p.Trp1740= | |
| NM_001077183.1:c.5019G= | NP_001070651.1:p.Trp1673= | |
| NM_001114382.1:c.5151G= | NP_001107854.1:p.Trp1717= | |
| XM_005255529.3:c.5091G= | XP_005255586.2:p.Trp1697= | |
| XM_005255531.3:c.5022G= | XP_005255588.2:p.Trp1674= | |
| XM_011522636.1:c.5274G= | XP_011520938.1:p.Trp1758= | |
| XM_011522637.1:c.5271G= | XP_011520939.1:p.Trp1757= | |
| XM_011522638.1:c.5163G= | XP_011520940.1:p.Trp1721= | |
| XM_011522639.1:c.5145G= | XP_011520941.1:p.Trp1715= | |
| XM_011522640.1:c.5142G= | XP_011520942.1:p.Trp1714= | |
| XM_011522641.1:c.4911G= | XP_011520943.1:p.Trp1637= | |
| NM_000548.4:c.5220G= | NP_000539.2:p.Trp1740= | |
| NM_001077183.2:c.5019G= | NP_001070651.1:p.Trp1673= | |
| NM_001114382.2:c.5151G= | NP_001107854.1:p.Trp1717= | |
| NM_001318827.1:c.4911G= | NP_001305756.1:p.Trp1637= | |
| NM_001318829.1:c.4875G= | NP_001305758.1:p.Trp1625= | |
| NM_001318831.1:c.4488G= | NP_001305760.1:p.Trp1496= | |
| NM_001318832.1:c.5052G= | NP_001305761.1:p.Trp1684= | |
| NM_001363528.1:c.5022G= | NP_001350457.1:p.Trp1674= | |
| NM_021055.2:c.5091G= | NP_066399.2:p.Trp1697= | |
| XM_005255531.4:c.5022G= | XP_005255588.2:p.Trp1674= | |
| XM_011522636.2:c.5274G= | XP_011520938.1:p.Trp1758= | |
| XM_011522637.2:c.5271G= | XP_011520939.1:p.Trp1757= | |
| XM_011522638.2:c.5436G= | XP_011520940.2:p.Trp1812= | |
| XM_011522639.2:c.5145G= | XP_011520941.1:p.Trp1715= | |
| XM_011522640.2:c.5142G= | XP_011520942.1:p.Trp1714= | |
| XM_017023615.1:c.5217G= | XP_016879104.1:p.Trp1739= | |
| XM_017023616.1:c.5088G= | XP_016879105.1:p.Trp1696= | |
| XM_017023617.1:c.5184G= | XP_016879106.1:p.Trp1728= | |
| XM_017023618.1:c.3930G= | XP_016879107.1:p.Trp1310= | |
| XM_024450413.1:c.5106G= | XP_024306181.1:p.Trp1702= | |
| NM_000548.5:c.5220G= MANE Select | NP_000539.2:p.Trp1740= | |
| NM_001370404.1:c.5088G= | NP_001357333.1:p.Trp1696= | |
| NM_001370405.1:c.5079G= | NP_001357334.1:p.Trp1693= | |
| NM_001077183.3:c.5019G= | NP_001070651.1:p.Trp1673= | |
| NM_001114382.3:c.5151G= | NP_001107854.1:p.Trp1717= | |
| NM_001318827.2:c.4911G= | NP_001305756.1:p.Trp1637= | |
| NM_001318829.2:c.4875G= | NP_001305758.1:p.Trp1625= | |
| NM_001318831.2:c.4488G= | NP_001305760.1:p.Trp1496= | |
| NM_001318832.2:c.5052G= | NP_001305761.1:p.Trp1684= | |
| NM_001363528.2:c.5022G= | NP_001350457.1:p.Trp1674= | |
| NM_021055.3:c.5091G= | NP_066399.2:p.Trp1697= |