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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085308G>C , CM000678.2:g.2085308G>C | GRCh38 |
| NC_000016.9:g.2135309G>C , CM000678.1:g.2135309G>C | GRCh37 |
| NC_000016.8:g.2075310G>C | NCBI36 |
| NG_005895.1:g.41003G>C , LRG_487:g.41003G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*2997G>C | ENSP00000455997.2:n.*2997G>C | |
| ENST00000642206.2:c.4495G>C | ENSP00000495146.2:p.Val1499Leu | |
| ENST00000642365.2:c.4645G>C | ENSP00000495459.2:p.Val1549Leu | |
| ENST00000644417.2:c.*5028G>C | ENSP00000493912.2:n.*5028G>C | |
| ENST00000646464.2:c.*7397G>C | ENSP00000496610.2:n.*7397G>C | |
| ENST00000219476.9:c.4648G>C MANE Select | ENSP00000219476.3:p.Val1550Leu | |
| ENST00000350773.9:c.4579G>C | ENSP00000344383.4:p.Val1527Leu | |
| ENST00000401874.7:c.4447G>C | ENSP00000384468.2:p.Val1483Leu | |
| ENST00000568454.6:c.4480G>C | ENSP00000454487.1:p.Val1494Leu | |
| ENST00000569110.2:c.871G>C | ||
| ENST00000569930.2:n.2530G>C | ||
| ENST00000642365.1:c.3302G>C | ||
| ENST00000642561.1:c.4519G>C | ENSP00000495099.1:p.Val1507Leu | |
| ENST00000642728.1:n.830G>C | ||
| ENST00000642791.1:n.245G>C | ||
| ENST00000642797.1:c.4450G>C | ENSP00000493846.1:p.Val1484Leu | |
| ENST00000642936.1:c.4516G>C | ENSP00000494514.1:p.Val1506Leu | |
| ENST00000643088.1:c.4441G>C | ENSP00000494747.1:p.Val1481Leu | |
| ENST00000643177.1:n.662G>C | ||
| ENST00000643426.1:n.2296G>C | ||
| ENST00000643946.1:c.4573G>C | ENSP00000495927.1:p.Val1525Leu | |
| ENST00000644043.1:c.4519G>C | ENSP00000496262.1:p.Val1507Leu | |
| ENST00000644278.1:n.130G>C | ||
| ENST00000644329.1:c.4447G>C | ENSP00000496611.1:p.Val1483Leu | |
| ENST00000644335.1:c.4444G>C | ENSP00000496317.1:p.Val1482Leu | |
| ENST00000644399.1:c.4569G>C | ||
| ENST00000645024.1:n.2732G>C | ||
| ENST00000646388.1:c.4642G>C | ENSP00000495921.1:p.Val1548Leu | |
| ENST00000646634.1:n.3463G>C | ||
| ENST00000646674.1:n.1900G>C | ||
| ENST00000647042.1:n.1871G>C | ||
| ENST00000647180.1:n.1761G>C | ||
| ENST00000219476.7:c.4648G>C | ENSP00000219476.3:p.Val1550Leu | |
| ENST00000350773.8:c.4579G>C | ENSP00000344383.4:p.Val1527Leu | |
| ENST00000382538.10:c.4303G>C | ENSP00000371978.6:p.Val1435Leu | |
| ENST00000401874.6:c.4447G>C | ENSP00000384468.2:p.Val1483Leu | |
| ENST00000439117.6:c.*3815G>C | ENSP00000406980.2:n.*3815G>C | |
| ENST00000439673.6:c.4339G>C | ENSP00000399232.2:p.Val1447Leu | |
| ENST00000497886.5:n.2406G>C | ||
| ENST00000568454.5:c.4480G>C | ENSP00000454487.1:p.Val1494Leu | |
| ENST00000569110.1:c.830G>C | ||
| ENST00000569930.1:n.1763G>C | ||
| NM_000548.3:c.4648G>C , LRG_487t1:c.4648G>C | NP_000539.2:p.Val1550Leu | |
| NM_001077183.1:c.4447G>C | NP_001070651.1:p.Val1483Leu | |
| NM_001114382.1:c.4579G>C | NP_001107854.1:p.Val1527Leu | |
| XM_005255529.3:c.4519G>C | XP_005255586.2:p.Val1507Leu | |
| XM_005255531.3:c.4450G>C | XP_005255588.2:p.Val1484Leu | |
| XM_011522636.1:c.4702G>C | XP_011520938.1:p.Val1568Leu | |
| XM_011522637.1:c.4699G>C | XP_011520939.1:p.Val1567Leu | |
| XM_011522638.1:c.4591G>C | XP_011520940.1:p.Val1531Leu | |
| XM_011522639.1:c.4573G>C | XP_011520941.1:p.Val1525Leu | |
| XM_011522640.1:c.4570G>C | XP_011520942.1:p.Val1524Leu | |
| XM_011522641.1:c.4339G>C | XP_011520943.1:p.Val1447Leu | |
| NM_000548.4:c.4648G>C | NP_000539.2:p.Val1550Leu | |
| NM_001077183.2:c.4447G>C | NP_001070651.1:p.Val1483Leu | |
| NM_001114382.2:c.4579G>C | NP_001107854.1:p.Val1527Leu | |
| NM_001318827.1:c.4339G>C | NP_001305756.1:p.Val1447Leu | |
| NM_001318829.1:c.4303G>C | NP_001305758.1:p.Val1435Leu | |
| NM_001318831.1:c.3916G>C | NP_001305760.1:p.Val1306Leu | |
| NM_001318832.1:c.4480G>C | NP_001305761.1:p.Val1494Leu | |
| NM_001363528.1:c.4450G>C | NP_001350457.1:p.Val1484Leu | |
| NM_021055.2:c.4519G>C | NP_066399.2:p.Val1507Leu | |
| XM_005255531.4:c.4450G>C | XP_005255588.2:p.Val1484Leu | |
| XM_011522636.2:c.4702G>C | XP_011520938.1:p.Val1568Leu | |
| XM_011522637.2:c.4699G>C | XP_011520939.1:p.Val1567Leu | |
| XM_011522638.2:c.4864G>C | XP_011520940.2:p.Val1622Leu | |
| XM_011522639.2:c.4573G>C | XP_011520941.1:p.Val1525Leu | |
| XM_011522640.2:c.4570G>C | XP_011520942.1:p.Val1524Leu | |
| XM_017023615.1:c.4645G>C | XP_016879104.1:p.Val1549Leu | |
| XM_017023616.1:c.4516G>C | XP_016879105.1:p.Val1506Leu | |
| XM_017023617.1:c.4612G>C | XP_016879106.1:p.Val1538Leu | |
| XM_017023618.1:c.3358G>C | XP_016879107.1:p.Val1120Leu | |
| XM_024450413.1:c.4447G>C | XP_024306181.1:p.Val1483Leu | |
| NM_000548.5:c.4648G>C MANE Select | NP_000539.2:p.Val1550Leu | |
| NM_001370404.1:c.4516G>C | NP_001357333.1:p.Val1506Leu | |
| NM_001370405.1:c.4519G>C | NP_001357334.1:p.Val1507Leu | |
| NM_001077183.3:c.4447G>C | NP_001070651.1:p.Val1483Leu | |
| NM_001114382.3:c.4579G>C | NP_001107854.1:p.Val1527Leu | |
| NM_001318827.2:c.4339G>C | NP_001305756.1:p.Val1447Leu | |
| NM_001318829.2:c.4303G>C | NP_001305758.1:p.Val1435Leu | |
| NM_001318831.2:c.3916G>C | NP_001305760.1:p.Val1306Leu | |
| NM_001318832.2:c.4480G>C | NP_001305761.1:p.Val1494Leu | |
| NM_001363528.2:c.4450G>C | NP_001350457.1:p.Val1484Leu | |
| NM_021055.3:c.4519G>C | NP_066399.2:p.Val1507Leu |