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.2084643G>A , CM000678.2:g.2084643G>A | GRCh38 |
| NC_000016.9:g.2134644G>A , CM000678.1:g.2134644G>A | GRCh37 |
| NC_000016.8:g.2074645G>A | NCBI36 |
| NG_005895.1:g.40338G>A , LRG_487:g.40338G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2770G>A | ENSP00000455997.2:n.*2770G>A | |
| ENST00000642206.2:c.4268G>A | ENSP00000495146.2:p.Arg1423Lys | |
| ENST00000642365.2:c.4418G>A | ENSP00000495459.2:p.Arg1473Lys | |
| ENST00000644417.2:c.*4801G>A | ENSP00000493912.2:n.*4801G>A | |
| ENST00000646464.2:c.*7170G>A | ENSP00000496610.2:n.*7170G>A | |
| ENST00000219476.9:c.4421G>A MANE Select | ENSP00000219476.3:p.Arg1474Lys | |
| ENST00000350773.9:c.4352G>A | ENSP00000344383.4:p.Arg1451Lys | |
| ENST00000401874.7:c.4220G>A | ENSP00000384468.2:p.Arg1407Lys | |
| ENST00000568454.6:c.4253G>A | ENSP00000454487.1:p.Arg1418Lys | |
| ENST00000569110.2:c.657G>A | ||
| ENST00000569930.2:n.2303G>A | ||
| ENST00000642365.1:c.3075G>A | ||
| ENST00000642561.1:c.4292G>A | ENSP00000495099.1:p.Arg1431Lys | |
| ENST00000642728.1:n.603G>A | ||
| ENST00000642797.1:c.4223G>A | ENSP00000493846.1:p.Arg1408Lys | |
| ENST00000642936.1:c.4289G>A | ENSP00000494514.1:p.Arg1430Lys | |
| ENST00000643088.1:c.4220G>A | ENSP00000494747.1:p.Arg1407Lys | |
| ENST00000643177.1:n.435G>A | ||
| ENST00000643426.1:n.2069G>A | ||
| ENST00000643946.1:c.4352G>A | ENSP00000495927.1:p.Arg1451Lys | |
| ENST00000644043.1:c.4292G>A | ENSP00000496262.1:p.Arg1431Lys | |
| ENST00000644329.1:c.4220G>A | ENSP00000496611.1:p.Arg1407Lys | |
| ENST00000644335.1:c.4223G>A | ENSP00000496317.1:p.Arg1408Lys | |
| ENST00000644399.1:c.4342G>A | ||
| ENST00000645024.1:n.2505G>A | ||
| ENST00000646388.1:c.4421G>A | ENSP00000495921.1:p.Arg1474Lys | |
| ENST00000646634.1:n.3236G>A | ||
| ENST00000646674.1:n.1673G>A | ||
| ENST00000647042.1:n.1644G>A | ||
| ENST00000647180.1:n.1534G>A | ||
| ENST00000219476.7:c.4421G>A | ENSP00000219476.3:p.Arg1474Lys | |
| ENST00000350773.8:c.4352G>A | ENSP00000344383.4:p.Arg1451Lys | |
| ENST00000382538.10:c.4076G>A | ENSP00000371978.6:p.Arg1359Lys | |
| ENST00000401874.6:c.4220G>A | ENSP00000384468.2:p.Arg1407Lys | |
| ENST00000439117.6:c.*3588G>A | ENSP00000406980.2:n.*3588G>A | |
| ENST00000439673.6:c.4112G>A | ENSP00000399232.2:p.Arg1371Lys | |
| ENST00000497886.5:n.2179G>A | ||
| ENST00000568454.5:c.4253G>A | ENSP00000454487.1:p.Arg1418Lys | |
| ENST00000569110.1:c.603G>A | ||
| ENST00000569930.1:n.1536G>A | ||
| NM_000548.3:c.4421G>A , LRG_487t1:c.4421G>A | NP_000539.2:p.Arg1474Lys | |
| NM_001077183.1:c.4220G>A | NP_001070651.1:p.Arg1407Lys | |
| NM_001114382.1:c.4352G>A | NP_001107854.1:p.Arg1451Lys | |
| XM_005255529.3:c.4292G>A | XP_005255586.2:p.Arg1431Lys | |
| XM_005255531.3:c.4223G>A | XP_005255588.2:p.Arg1408Lys | |
| XM_011522636.1:c.4475G>A | XP_011520938.1:p.Arg1492Lys | |
| XM_011522637.1:c.4472G>A | XP_011520939.1:p.Arg1491Lys | |
| XM_011522638.1:c.4364G>A | XP_011520940.1:p.Arg1455Lys | |
| XM_011522639.1:c.4346G>A | XP_011520941.1:p.Arg1449Lys | |
| XM_011522640.1:c.4343G>A | XP_011520942.1:p.Arg1448Lys | |
| XM_011522641.1:c.4112G>A | XP_011520943.1:p.Arg1371Lys | |
| NM_000548.4:c.4421G>A | NP_000539.2:p.Arg1474Lys | |
| NM_001077183.2:c.4220G>A | NP_001070651.1:p.Arg1407Lys | |
| NM_001114382.2:c.4352G>A | NP_001107854.1:p.Arg1451Lys | |
| NM_001318827.1:c.4112G>A | NP_001305756.1:p.Arg1371Lys | |
| NM_001318829.1:c.4076G>A | NP_001305758.1:p.Arg1359Lys | |
| NM_001318831.1:c.3689G>A | NP_001305760.1:p.Arg1230Lys | |
| NM_001318832.1:c.4253G>A | NP_001305761.1:p.Arg1418Lys | |
| NM_001363528.1:c.4223G>A | NP_001350457.1:p.Arg1408Lys | |
| NM_021055.2:c.4292G>A | NP_066399.2:p.Arg1431Lys | |
| XM_005255531.4:c.4223G>A | XP_005255588.2:p.Arg1408Lys | |
| XM_011522636.2:c.4475G>A | XP_011520938.1:p.Arg1492Lys | |
| XM_011522637.2:c.4472G>A | XP_011520939.1:p.Arg1491Lys | |
| XM_011522638.2:c.4637G>A | XP_011520940.2:p.Arg1546Lys | |
| XM_011522639.2:c.4346G>A | XP_011520941.1:p.Arg1449Lys | |
| XM_011522640.2:c.4343G>A | XP_011520942.1:p.Arg1448Lys | |
| XM_017023615.1:c.4418G>A | XP_016879104.1:p.Arg1473Lys | |
| XM_017023616.1:c.4289G>A | XP_016879105.1:p.Arg1430Lys | |
| XM_017023617.1:c.4385G>A | XP_016879106.1:p.Arg1462Lys | |
| XM_017023618.1:c.3131G>A | XP_016879107.1:p.Arg1044Lys | |
| XM_024450413.1:c.4220G>A | XP_024306181.1:p.Arg1407Lys | |
| NM_000548.5:c.4421G>A MANE Select | NP_000539.2:p.Arg1474Lys | |
| NM_001370404.1:c.4289G>A | NP_001357333.1:p.Arg1430Lys | |
| NM_001370405.1:c.4292G>A | NP_001357334.1:p.Arg1431Lys | |
| NM_001077183.3:c.4220G>A | NP_001070651.1:p.Arg1407Lys | |
| NM_001114382.3:c.4352G>A | NP_001107854.1:p.Arg1451Lys | |
| NM_001318827.2:c.4112G>A | NP_001305756.1:p.Arg1371Lys | |
| NM_001318829.2:c.4076G>A | NP_001305758.1:p.Arg1359Lys | |
| NM_001318831.2:c.3689G>A | NP_001305760.1:p.Arg1230Lys | |
| NM_001318832.2:c.4253G>A | NP_001305761.1:p.Arg1418Lys | |
| NM_001363528.2:c.4223G>A | NP_001350457.1:p.Arg1408Lys | |
| NM_021055.3:c.4292G>A | NP_066399.2:p.Arg1431Lys |