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.131522055C= , CM000671.2:g.131522055C= | GRCh38 |
| NC_000009.11:g.134397442C= , CM000671.1:g.134397442C= | GRCh37 |
| NC_000009.10:g.133387263C= | NCBI36 |
| NG_008896.1:g.24154C= | |
| NG_008896.2:g.24154C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1672C= | ENSP00000343034.7:p.Leu558= | |
| ENST00000404875.7:n.2374C= | ||
| ENST00000423007.6:c.1891C= | ENSP00000404119.2:p.Leu631= | |
| ENST00000677295.2:c.*2178C= | ENSP00000504346.2:n.*2178C= | |
| ENST00000678264.2:c.*2017C= | ENSP00000503157.2:n.*2017C= | |
| ENST00000682070.1:n.2291-147C= | ||
| ENST00000682813.1:n.2238C= | ||
| ENST00000683392.1:n.4573-147C= | ||
| ENST00000683712.1:n.2239C= | ||
| ENST00000683900.1:n.3734C= | ||
| ENST00000684062.1:n.2500C= | ||
| ENST00000684579.1:n.3680C= | ||
| ENST00000684679.1:n.1061C= | ||
| ENST00000341012.12:c.1672C= | ENSP00000343034.7:p.Leu558= | |
| ENST00000372220.5:c.703C= | ENSP00000361294.5:p.Leu235= | |
| ENST00000372228.9:c.1900C= | ENSP00000361302.3:p.Leu634= | |
| ENST00000402686.8:c.1834C= MANE Select | ENSP00000385797.4:p.Leu612= | |
| ENST00000676640.1:c.1834C= | ENSP00000503281.1:p.Leu612= | |
| ENST00000676803.1:c.895C= | ENSP00000503093.1:p.Leu299= | |
| ENST00000676835.1:c.*1049C= | ENSP00000502911.1:n.*1049C= | |
| ENST00000677029.1:c.1378C= | ENSP00000502936.1:p.Leu460= | |
| ENST00000677099.1:c.*1544C= | ENSP00000504553.1:n.*1544C= | |
| ENST00000677216.1:c.1483C= | ENSP00000503772.1:p.Leu495= | |
| ENST00000677221.1:n.859C= | ||
| ENST00000677295.1:c.*1203-147C= | ENSP00000504346.1:n.*1203-147C= | |
| ENST00000677444.1:c.1779C= | ||
| ENST00000677586.1:n.1201C= | ||
| ENST00000677626.1:c.1483C= | ENSP00000503552.1:p.Leu495= | |
| ENST00000677853.1:c.*842C= | ENSP00000503488.1:n.*842C= | |
| ENST00000678202.1:n.993C= | ||
| ENST00000678264.1:c.*1211C= | ENSP00000503157.1:n.*1211C= | |
| ENST00000678303.1:c.1744C= | ENSP00000503696.1:p.Leu582= | |
| ENST00000678366.1:c.*2083C= | ENSP00000504353.1:n.*2083C= | |
| ENST00000678546.1:c.*1779C= | ENSP00000503062.1:n.*1779C= | |
| ENST00000678548.1:c.*1973C= | ENSP00000503934.1:n.*1973C= | |
| ENST00000678626.1:n.1670C= | ||
| ENST00000678739.1:c.*2147-147C= | ENSP00000503806.1:n.*2147-147C= | |
| ENST00000678833.1:c.*1586C= | ENSP00000503893.1:n.*1586C= | |
| ENST00000679023.1:c.1672C= | ENSP00000503718.1:p.Leu558= | |
| ENST00000679076.1:c.1453C= | ||
| ENST00000679111.1:c.*590C= | ENSP00000504257.1:n.*590C= | |
| ENST00000679189.1:c.1483C= | ENSP00000503356.1:p.Leu495= | |
| ENST00000341012.11:c.1672C= | ENSP00000343034.7:p.Leu558= | |
| ENST00000372220.4:c.697C= | ENSP00000361294.4:p.Leu233= | |
| ENST00000372228.7:c.1900C= | ENSP00000361302.3:p.Leu634= | |
| ENST00000402686.7:c.1834C= | ENSP00000385797.3:p.Leu612= | |
| ENST00000404875.6:c.1483C= | ENSP00000384531.2:p.Leu495= | |
| ENST00000423007.5:c.1834C= | ENSP00000404119.1:p.Leu612= | |
| ENST00000485278.5:n.2384C= | ||
| ENST00000494883.1:n.377C= | ||
| NM_001077365.1:c.1834C= | NP_001070833.1:p.Leu612= | |
| NM_001077366.1:c.1672C= | NP_001070834.1:p.Leu558= | |
| NM_001136113.1:c.1834C= | NP_001129585.1:p.Leu612= | |
| NM_001136114.1:c.1483C= | NP_001129586.1:p.Leu495= | |
| NM_007171.3:c.1900C= | NP_009102.3:p.Leu634= | |
| XM_005272156.1:c.1900C= | XP_005272213.1:p.Leu634= | |
| XM_005272158.1:c.1738C= | XP_005272215.1:p.Leu580= | |
| XM_005272159.1:c.1549C= | XP_005272216.1:p.Leu517= | |
| XM_005272162.1:c.703C= | XP_005272219.1:p.Leu235= | |
| XM_006716932.1:c.1549C= | XP_006716995.1:p.Leu517= | |
| XM_011518140.1:c.1753C= | XP_011516442.1:p.Leu585= | |
| XM_011518141.1:c.1687C= | XP_011516443.1:p.Leu563= | |
| XM_011518142.1:c.1591C= | XP_011516444.1:p.Leu531= | |
| XM_011518143.1:c.1585C= | XP_011516445.1:p.Leu529= | |
| XM_011518145.1:c.1444C= | XP_011516447.1:p.Leu482= | |
| XM_011518147.1:c.772C= | XP_011516449.1:p.Leu258= | |
| XR_929703.1:n.2076C= | ||
| NM_001353193.1:c.1900C= | NP_001340122.1:p.Leu634= | |
| NM_001353194.1:c.1672C= | NP_001340123.1:p.Leu558= | |
| NM_001353195.1:c.1483C= | NP_001340124.1:p.Leu495= | |
| NM_001353196.1:c.1744C= | NP_001340125.1:p.Leu582= | |
| NM_001353197.1:c.1738C= | NP_001340126.1:p.Leu580= | |
| NM_001353198.1:c.1738C= | NP_001340127.1:p.Leu580= | |
| NM_001353199.1:c.1549C= | NP_001340128.1:p.Leu517= | |
| NM_001353200.1:c.1378C= | NP_001340129.1:p.Leu460= | |
| NR_148391.1:n.1884C= | ||
| NR_148392.1:n.2102C= | ||
| NR_148393.1:n.2023C= | ||
| NR_148394.1:n.1777C= | ||
| NR_148395.1:n.2175C= | ||
| NR_148396.1:n.1809C= | ||
| NR_148397.1:n.1934C= | ||
| NR_148398.1:n.1889C= | ||
| NR_148399.1:n.2415C= | ||
| NR_148400.1:n.2014C= | ||
| XM_005272162.3:c.703C= | XP_005272219.1:p.Leu235= | |
| XM_006716932.2:c.1549C= | XP_006716995.1:p.Leu517= | |
| XM_011518140.2:c.1753C= | XP_011516442.1:p.Leu585= | |
| XM_011518141.2:c.1687C= | XP_011516443.1:p.Leu563= | |
| XM_011518142.2:c.1591C= | XP_011516444.1:p.Leu531= | |
| XM_011518143.2:c.1585C= | XP_011516445.1:p.Leu529= | |
| XM_011518145.2:c.1444C= | XP_011516447.1:p.Leu482= | |
| XM_017014205.2:c.703C= | XP_016869694.1:p.Leu235= | |
| XM_024447380.1:c.703C= | XP_024303148.1:p.Leu235= | |
| XM_024447381.1:c.1009C= | XP_024303149.1:p.Leu337= | |
| XM_024447382.1:c.703C= | XP_024303150.1:p.Leu235= | |
| XR_001746160.2:n.2004C= | ||
| XR_001746162.2:n.2209C= | ||
| XR_001746164.1:n.1926C= | ||
| XR_001746166.2:n.2221C= | ||
| NM_001077365.2:c.1834C= MANE Select | NP_001070833.1:p.Leu612= | |
| NM_001077366.2:c.1672C= | NP_001070834.1:p.Leu558= | |
| NM_001136113.2:c.1834C= | NP_001129585.1:p.Leu612= | |
| NM_001136114.2:c.1483C= | NP_001129586.1:p.Leu495= | |
| NM_001353193.2:c.1900C= | NP_001340122.2:p.Leu634= | |
| NM_001353194.2:c.1672C= | NP_001340123.1:p.Leu558= | |
| NM_001353195.2:c.1483C= | NP_001340124.1:p.Leu495= | |
| NM_001353196.2:c.1744C= | NP_001340125.1:p.Leu582= | |
| NM_001353197.2:c.1738C= | NP_001340126.2:p.Leu580= | |
| NM_001353198.2:c.1738C= | NP_001340127.2:p.Leu580= | |
| NM_001353199.2:c.1549C= | NP_001340128.2:p.Leu517= | |
| NM_001353200.2:c.1378C= | NP_001340129.1:p.Leu460= | |
| NM_001374689.1:c.1822C= | NP_001361618.1:p.Leu608= | |
| NM_001374690.1:c.1615C= | NP_001361619.1:p.Leu539= | |
| NM_001374691.1:c.1483C= | NP_001361620.1:p.Leu495= | |
| NM_001374692.1:c.1483C= | NP_001361621.1:p.Leu495= | |
| NM_001374693.1:c.1483C= | NP_001361622.1:p.Leu495= | |
| NM_001374695.1:c.1444C= | NP_001361624.1:p.Leu482= | |
| NM_007171.4:c.1900C= | NP_009102.4:p.Leu634= | |
| NR_148391.2:n.1868C= | ||
| NR_148392.2:n.2086C= | ||
| NR_148393.2:n.2007C= | ||
| NR_148394.2:n.1761C= | ||
| NR_148395.2:n.2159C= | ||
| NR_148396.2:n.1793C= | ||
| NR_148397.2:n.1918C= | ||
| NR_148398.2:n.1873C= | ||
| NR_148399.2:n.2399C= | ||
| NR_148400.2:n.1998C= |