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.2088229G>C , CM000678.2:g.2088229G>C | GRCh38 |
| NC_000016.9:g.2138230G>C , CM000678.1:g.2138230G>C | GRCh37 |
| NC_000016.8:g.2078231G>C | NCBI36 |
| NG_005895.1:g.43924G>C , LRG_487:g.43924G>C | |
| NG_008617.1:g.54992C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3512G>C | ENSP00000455997.2:n.*3512G>C | |
| ENST00000642206.2:c.5010G>C | ENSP00000495146.2:p.Met1670Ile | |
| ENST00000642365.2:c.5160G>C | ENSP00000495459.2:p.Met1720Ile | |
| ENST00000644417.2:c.*5676G>C | ENSP00000493912.2:n.*5676G>C | |
| ENST00000646464.2:c.*7912G>C | ENSP00000496610.2:n.*7912G>C | |
| ENST00000219476.9:c.5163G>C MANE Select | ENSP00000219476.3:p.Met1721Ile | |
| ENST00000350773.9:c.5094G>C | ENSP00000344383.4:p.Met1698Ile | |
| ENST00000401874.7:c.4962G>C | ENSP00000384468.2:p.Met1654Ile | |
| ENST00000568454.6:c.4995G>C | ENSP00000454487.1:p.Met1665Ile | |
| ENST00000569110.2:c.1386G>C | ||
| ENST00000569930.2:n.3045G>C | ||
| ENST00000642365.1:c.3817G>C | ||
| ENST00000642561.1:c.5032-10G>C | ENSP00000495099.1:n.5032-10G>C | |
| ENST00000642791.1:n.760G>C | ||
| ENST00000642797.1:c.4965G>C | ENSP00000493846.1:p.Met1655Ile | |
| ENST00000642936.1:c.5031G>C | ENSP00000494514.1:p.Met1677Ile | |
| ENST00000643088.1:c.4956G>C | ENSP00000494747.1:p.Met1652Ile | |
| ENST00000643426.1:n.2811G>C | ||
| ENST00000643946.1:c.5088G>C | ENSP00000495927.1:p.Met1696Ile | |
| ENST00000644043.1:c.5034G>C | ENSP00000496262.1:p.Met1678Ile | |
| ENST00000644329.1:c.5049G>C | ENSP00000496611.1:p.Met1683Ile | |
| ENST00000644335.1:c.4959G>C | ENSP00000496317.1:p.Met1653Ile | |
| ENST00000644399.1:c.5084G>C | ||
| ENST00000645024.1:n.3247G>C | ||
| ENST00000646388.1:c.5157G>C | ENSP00000495921.1:p.Met1719Ile | |
| ENST00000646634.1:n.3978G>C | ||
| ENST00000646674.1:n.2415G>C | ||
| ENST00000647042.1:n.2386G>C | ||
| ENST00000647180.1:n.2276G>C | ||
| ENST00000219476.7:c.5163G>C | ENSP00000219476.3:p.Met1721Ile | |
| ENST00000350773.8:c.5094G>C | ENSP00000344383.4:p.Met1698Ile | |
| ENST00000382538.10:c.4818G>C | ENSP00000371978.6:p.Met1606Ile | |
| ENST00000401874.6:c.4962G>C | ENSP00000384468.2:p.Met1654Ile | |
| ENST00000439117.6:c.*4330G>C | ENSP00000406980.2:n.*4330G>C | |
| ENST00000439673.6:c.4854G>C | ENSP00000399232.2:p.Met1618Ile | |
| ENST00000497886.5:n.2886G>C | ||
| ENST00000568454.5:c.4995G>C | ENSP00000454487.1:p.Met1665Ile | |
| ENST00000569110.1:c.1345G>C | ||
| ENST00000569930.1:n.2278G>C | ||
| NM_000548.3:c.5163G>C , LRG_487t1:c.5163G>C | NP_000539.2:p.Met1721Ile | |
| NM_001077183.1:c.4962G>C | NP_001070651.1:p.Met1654Ile | |
| NM_001114382.1:c.5094G>C | NP_001107854.1:p.Met1698Ile | |
| XM_005255529.3:c.5034G>C | XP_005255586.2:p.Met1678Ile | |
| XM_005255531.3:c.4965G>C | XP_005255588.2:p.Met1655Ile | |
| XM_011522636.1:c.5217G>C | XP_011520938.1:p.Met1739Ile | |
| XM_011522637.1:c.5214G>C | XP_011520939.1:p.Met1738Ile | |
| XM_011522638.1:c.5106G>C | XP_011520940.1:p.Met1702Ile | |
| XM_011522639.1:c.5088G>C | XP_011520941.1:p.Met1696Ile | |
| XM_011522640.1:c.5085G>C | XP_011520942.1:p.Met1695Ile | |
| XM_011522641.1:c.4854G>C | XP_011520943.1:p.Met1618Ile | |
| NM_000548.4:c.5163G>C | NP_000539.2:p.Met1721Ile | |
| NM_001077183.2:c.4962G>C | NP_001070651.1:p.Met1654Ile | |
| NM_001114382.2:c.5094G>C | NP_001107854.1:p.Met1698Ile | |
| NM_001318827.1:c.4854G>C | NP_001305756.1:p.Met1618Ile | |
| NM_001318829.1:c.4818G>C | NP_001305758.1:p.Met1606Ile | |
| NM_001318831.1:c.4431G>C | NP_001305760.1:p.Met1477Ile | |
| NM_001318832.1:c.4995G>C | NP_001305761.1:p.Met1665Ile | |
| NM_001363528.1:c.4965G>C | NP_001350457.1:p.Met1655Ile | |
| NM_021055.2:c.5034G>C | NP_066399.2:p.Met1678Ile | |
| XM_005255531.4:c.4965G>C | XP_005255588.2:p.Met1655Ile | |
| XM_011522636.2:c.5217G>C | XP_011520938.1:p.Met1739Ile | |
| XM_011522637.2:c.5214G>C | XP_011520939.1:p.Met1738Ile | |
| XM_011522638.2:c.5379G>C | XP_011520940.2:p.Met1793Ile | |
| XM_011522639.2:c.5088G>C | XP_011520941.1:p.Met1696Ile | |
| XM_011522640.2:c.5085G>C | XP_011520942.1:p.Met1695Ile | |
| XM_017023615.1:c.5160G>C | XP_016879104.1:p.Met1720Ile | |
| XM_017023616.1:c.5031G>C | XP_016879105.1:p.Met1677Ile | |
| XM_017023617.1:c.5127G>C | XP_016879106.1:p.Met1709Ile | |
| XM_017023618.1:c.3873G>C | XP_016879107.1:p.Met1291Ile | |
| XM_024450413.1:c.5049G>C | XP_024306181.1:p.Met1683Ile | |
| NM_000548.5:c.5163G>C MANE Select | NP_000539.2:p.Met1721Ile | |
| NM_001370404.1:c.5031G>C | NP_001357333.1:p.Met1677Ile | |
| NM_001370405.1:c.5032-10G>C | NP_001357334.1:n.5032-10G>C | |
| NM_001077183.3:c.4962G>C | NP_001070651.1:p.Met1654Ile | |
| NM_001114382.3:c.5094G>C | NP_001107854.1:p.Met1698Ile | |
| NM_001318827.2:c.4854G>C | NP_001305756.1:p.Met1618Ile | |
| NM_001318829.2:c.4818G>C | NP_001305758.1:p.Met1606Ile | |
| NM_001318831.2:c.4431G>C | NP_001305760.1:p.Met1477Ile | |
| NM_001318832.2:c.4995G>C | NP_001305761.1:p.Met1665Ile | |
| NM_001363528.2:c.4965G>C | NP_001350457.1:p.Met1655Ile | |
| NM_021055.3:c.5034G>C | NP_066399.2:p.Met1678Ile |