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_000009.12:g.131522068T= , CM000671.2:g.131522068T= | GRCh38 |
| NC_000009.11:g.134397455T= , CM000671.1:g.134397455T= | GRCh37 |
| NC_000009.10:g.133387276T= | NCBI36 |
| NG_008896.1:g.24167T= | |
| NG_008896.2:g.24167T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1685T= | ENSP00000343034.7:p.Leu562= | |
| ENST00000404875.7:n.2387T= | ||
| ENST00000423007.6:c.1904T= | ENSP00000404119.2:p.Leu635= | |
| ENST00000677295.2:c.*2191T= | ENSP00000504346.2:n.*2191T= | |
| ENST00000678264.2:c.*2030T= | ENSP00000503157.2:n.*2030T= | |
| ENST00000682070.1:n.2291-134T= | ||
| ENST00000682813.1:n.2251T= | ||
| ENST00000683392.1:n.4573-134T= | ||
| ENST00000683712.1:n.2252T= | ||
| ENST00000683900.1:n.3747T= | ||
| ENST00000684062.1:n.2513T= | ||
| ENST00000684579.1:n.3693T= | ||
| ENST00000684679.1:n.1074T= | ||
| ENST00000341012.12:c.1685T= | ENSP00000343034.7:p.Leu562= | |
| ENST00000372220.5:c.716T= | ENSP00000361294.5:p.Leu239= | |
| ENST00000372228.9:c.1913T= | ENSP00000361302.3:p.Leu638= | |
| ENST00000402686.8:c.1847T= MANE Select | ENSP00000385797.4:p.Leu616= | |
| ENST00000676640.1:c.1847T= | ENSP00000503281.1:p.Leu616= | |
| ENST00000676803.1:c.908T= | ENSP00000503093.1:p.Leu303= | |
| ENST00000676835.1:c.*1062T= | ENSP00000502911.1:n.*1062T= | |
| ENST00000677029.1:c.1391T= | ENSP00000502936.1:p.Leu464= | |
| ENST00000677099.1:c.*1557T= | ENSP00000504553.1:n.*1557T= | |
| ENST00000677216.1:c.1496T= | ENSP00000503772.1:p.Leu499= | |
| ENST00000677221.1:n.872T= | ||
| ENST00000677295.1:c.*1203-134T= | ENSP00000504346.1:n.*1203-134T= | |
| ENST00000677444.1:c.1792T= | ||
| ENST00000677586.1:n.1214T= | ||
| ENST00000677626.1:c.1496T= | ENSP00000503552.1:p.Leu499= | |
| ENST00000677853.1:c.*855T= | ENSP00000503488.1:n.*855T= | |
| ENST00000678202.1:n.1006T= | ||
| ENST00000678264.1:c.*1224T= | ENSP00000503157.1:n.*1224T= | |
| ENST00000678303.1:c.1757T= | ENSP00000503696.1:p.Leu586= | |
| ENST00000678366.1:c.*2096T= | ENSP00000504353.1:n.*2096T= | |
| ENST00000678546.1:c.*1792T= | ENSP00000503062.1:n.*1792T= | |
| ENST00000678548.1:c.*1986T= | ENSP00000503934.1:n.*1986T= | |
| ENST00000678626.1:n.1683T= | ||
| ENST00000678739.1:c.*2147-134T= | ENSP00000503806.1:n.*2147-134T= | |
| ENST00000678833.1:c.*1599T= | ENSP00000503893.1:n.*1599T= | |
| ENST00000679023.1:c.1685T= | ENSP00000503718.1:p.Leu562= | |
| ENST00000679076.1:c.1466T= | ||
| ENST00000679111.1:c.*603T= | ENSP00000504257.1:n.*603T= | |
| ENST00000679189.1:c.1496T= | ENSP00000503356.1:p.Leu499= | |
| ENST00000341012.11:c.1685T= | ENSP00000343034.7:p.Leu562= | |
| ENST00000372220.4:c.710T= | ENSP00000361294.4:p.Leu237= | |
| ENST00000372228.7:c.1913T= | ENSP00000361302.3:p.Leu638= | |
| ENST00000402686.7:c.1847T= | ENSP00000385797.3:p.Leu616= | |
| ENST00000404875.6:c.1496T= | ENSP00000384531.2:p.Leu499= | |
| ENST00000423007.5:c.1847T= | ENSP00000404119.1:p.Leu616= | |
| ENST00000485278.5:n.2397T= | ||
| ENST00000494883.1:n.390T= | ||
| NM_001077365.1:c.1847T= | NP_001070833.1:p.Leu616= | |
| NM_001077366.1:c.1685T= | NP_001070834.1:p.Leu562= | |
| NM_001136113.1:c.1847T= | NP_001129585.1:p.Leu616= | |
| NM_001136114.1:c.1496T= | NP_001129586.1:p.Leu499= | |
| NM_007171.3:c.1913T= | NP_009102.3:p.Leu638= | |
| XM_005272156.1:c.1913T= | XP_005272213.1:p.Leu638= | |
| XM_005272158.1:c.1751T= | XP_005272215.1:p.Leu584= | |
| XM_005272159.1:c.1562T= | XP_005272216.1:p.Leu521= | |
| XM_005272162.1:c.716T= | XP_005272219.1:p.Leu239= | |
| XM_006716932.1:c.1562T= | XP_006716995.1:p.Leu521= | |
| XM_011518140.1:c.1766T= | XP_011516442.1:p.Leu589= | |
| XM_011518141.1:c.1700T= | XP_011516443.1:p.Leu567= | |
| XM_011518142.1:c.1604T= | XP_011516444.1:p.Leu535= | |
| XM_011518143.1:c.1598T= | XP_011516445.1:p.Leu533= | |
| XM_011518145.1:c.1457T= | XP_011516447.1:p.Leu486= | |
| XM_011518147.1:c.785T= | XP_011516449.1:p.Leu262= | |
| XR_929703.1:n.2089T= | ||
| NM_001353193.1:c.1913T= | NP_001340122.1:p.Leu638= | |
| NM_001353194.1:c.1685T= | NP_001340123.1:p.Leu562= | |
| NM_001353195.1:c.1496T= | NP_001340124.1:p.Leu499= | |
| NM_001353196.1:c.1757T= | NP_001340125.1:p.Leu586= | |
| NM_001353197.1:c.1751T= | NP_001340126.1:p.Leu584= | |
| NM_001353198.1:c.1751T= | NP_001340127.1:p.Leu584= | |
| NM_001353199.1:c.1562T= | NP_001340128.1:p.Leu521= | |
| NM_001353200.1:c.1391T= | NP_001340129.1:p.Leu464= | |
| NR_148391.1:n.1897T= | ||
| NR_148392.1:n.2115T= | ||
| NR_148393.1:n.2036T= | ||
| NR_148394.1:n.1790T= | ||
| NR_148395.1:n.2188T= | ||
| NR_148396.1:n.1822T= | ||
| NR_148397.1:n.1947T= | ||
| NR_148398.1:n.1902T= | ||
| NR_148399.1:n.2428T= | ||
| NR_148400.1:n.2027T= | ||
| XM_005272162.3:c.716T= | XP_005272219.1:p.Leu239= | |
| XM_006716932.2:c.1562T= | XP_006716995.1:p.Leu521= | |
| XM_011518140.2:c.1766T= | XP_011516442.1:p.Leu589= | |
| XM_011518141.2:c.1700T= | XP_011516443.1:p.Leu567= | |
| XM_011518142.2:c.1604T= | XP_011516444.1:p.Leu535= | |
| XM_011518143.2:c.1598T= | XP_011516445.1:p.Leu533= | |
| XM_011518145.2:c.1457T= | XP_011516447.1:p.Leu486= | |
| XM_017014205.2:c.716T= | XP_016869694.1:p.Leu239= | |
| XM_024447380.1:c.716T= | XP_024303148.1:p.Leu239= | |
| XM_024447381.1:c.1022T= | XP_024303149.1:p.Leu341= | |
| XM_024447382.1:c.716T= | XP_024303150.1:p.Leu239= | |
| XR_001746160.2:n.2017T= | ||
| XR_001746162.2:n.2222T= | ||
| XR_001746164.1:n.1939T= | ||
| XR_001746166.2:n.2234T= | ||
| NM_001077365.2:c.1847T= MANE Select | NP_001070833.1:p.Leu616= | |
| NM_001077366.2:c.1685T= | NP_001070834.1:p.Leu562= | |
| NM_001136113.2:c.1847T= | NP_001129585.1:p.Leu616= | |
| NM_001136114.2:c.1496T= | NP_001129586.1:p.Leu499= | |
| NM_001353193.2:c.1913T= | NP_001340122.2:p.Leu638= | |
| NM_001353194.2:c.1685T= | NP_001340123.1:p.Leu562= | |
| NM_001353195.2:c.1496T= | NP_001340124.1:p.Leu499= | |
| NM_001353196.2:c.1757T= | NP_001340125.1:p.Leu586= | |
| NM_001353197.2:c.1751T= | NP_001340126.2:p.Leu584= | |
| NM_001353198.2:c.1751T= | NP_001340127.2:p.Leu584= | |
| NM_001353199.2:c.1562T= | NP_001340128.2:p.Leu521= | |
| NM_001353200.2:c.1391T= | NP_001340129.1:p.Leu464= | |
| NM_001374689.1:c.1835T= | NP_001361618.1:p.Leu612= | |
| NM_001374690.1:c.1628T= | NP_001361619.1:p.Leu543= | |
| NM_001374691.1:c.1496T= | NP_001361620.1:p.Leu499= | |
| NM_001374692.1:c.1496T= | NP_001361621.1:p.Leu499= | |
| NM_001374693.1:c.1496T= | NP_001361622.1:p.Leu499= | |
| NM_001374695.1:c.1457T= | NP_001361624.1:p.Leu486= | |
| NM_007171.4:c.1913T= | NP_009102.4:p.Leu638= | |
| NR_148391.2:n.1881T= | ||
| NR_148392.2:n.2099T= | ||
| NR_148393.2:n.2020T= | ||
| NR_148394.2:n.1774T= | ||
| NR_148395.2:n.2172T= | ||
| NR_148396.2:n.1806T= | ||
| NR_148397.2:n.1931T= | ||
| NR_148398.2:n.1886T= | ||
| NR_148399.2:n.2412T= | ||
| NR_148400.2:n.2011T= |