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.131522050C= , CM000671.2:g.131522050C= | GRCh38 |
| NC_000009.11:g.134397437C= , CM000671.1:g.134397437C= | GRCh37 |
| NC_000009.10:g.133387258C= | NCBI36 |
| NG_008896.1:g.24149C= | |
| NG_008896.2:g.24149C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1667C= | ENSP00000343034.7:p.Ala556= | |
| ENST00000404875.7:n.2369C= | ||
| ENST00000423007.6:c.1886C= | ENSP00000404119.2:p.Ala629= | |
| ENST00000677295.2:c.*2173C= | ENSP00000504346.2:n.*2173C= | |
| ENST00000678264.2:c.*2012C= | ENSP00000503157.2:n.*2012C= | |
| ENST00000682070.1:n.2291-152C= | ||
| ENST00000682813.1:n.2233C= | ||
| ENST00000683392.1:n.4573-152C= | ||
| ENST00000683712.1:n.2234C= | ||
| ENST00000683900.1:n.3729C= | ||
| ENST00000684062.1:n.2495C= | ||
| ENST00000684579.1:n.3675C= | ||
| ENST00000684679.1:n.1056C= | ||
| ENST00000341012.12:c.1667C= | ENSP00000343034.7:p.Ala556= | |
| ENST00000372220.5:c.698C= | ENSP00000361294.5:p.Ala233= | |
| ENST00000372228.9:c.1895C= | ENSP00000361302.3:p.Ala632= | |
| ENST00000402686.8:c.1829C= MANE Select | ENSP00000385797.4:p.Ala610= | |
| ENST00000676640.1:c.1829C= | ENSP00000503281.1:p.Ala610= | |
| ENST00000676803.1:c.890C= | ENSP00000503093.1:p.Ala297= | |
| ENST00000676835.1:c.*1044C= | ENSP00000502911.1:n.*1044C= | |
| ENST00000677029.1:c.1373C= | ENSP00000502936.1:p.Ala458= | |
| ENST00000677099.1:c.*1539C= | ENSP00000504553.1:n.*1539C= | |
| ENST00000677216.1:c.1478C= | ENSP00000503772.1:p.Ala493= | |
| ENST00000677221.1:n.854C= | ||
| ENST00000677295.1:c.*1203-152C= | ENSP00000504346.1:n.*1203-152C= | |
| ENST00000677444.1:c.1774C= | ||
| ENST00000677586.1:n.1196C= | ||
| ENST00000677626.1:c.1478C= | ENSP00000503552.1:p.Ala493= | |
| ENST00000677853.1:c.*837C= | ENSP00000503488.1:n.*837C= | |
| ENST00000678202.1:n.988C= | ||
| ENST00000678264.1:c.*1206C= | ENSP00000503157.1:n.*1206C= | |
| ENST00000678303.1:c.1739C= | ENSP00000503696.1:p.Ala580= | |
| ENST00000678366.1:c.*2078C= | ENSP00000504353.1:n.*2078C= | |
| ENST00000678546.1:c.*1774C= | ENSP00000503062.1:n.*1774C= | |
| ENST00000678548.1:c.*1968C= | ENSP00000503934.1:n.*1968C= | |
| ENST00000678626.1:n.1665C= | ||
| ENST00000678739.1:c.*2147-152C= | ENSP00000503806.1:n.*2147-152C= | |
| ENST00000678833.1:c.*1581C= | ENSP00000503893.1:n.*1581C= | |
| ENST00000679023.1:c.1667C= | ENSP00000503718.1:p.Ala556= | |
| ENST00000679076.1:c.1448C= | ||
| ENST00000679111.1:c.*585C= | ENSP00000504257.1:n.*585C= | |
| ENST00000679189.1:c.1478C= | ENSP00000503356.1:p.Ala493= | |
| ENST00000341012.11:c.1667C= | ENSP00000343034.7:p.Ala556= | |
| ENST00000372220.4:c.692C= | ENSP00000361294.4:p.Ala231= | |
| ENST00000372228.7:c.1895C= | ENSP00000361302.3:p.Ala632= | |
| ENST00000402686.7:c.1829C= | ENSP00000385797.3:p.Ala610= | |
| ENST00000404875.6:c.1478C= | ENSP00000384531.2:p.Ala493= | |
| ENST00000423007.5:c.1829C= | ENSP00000404119.1:p.Ala610= | |
| ENST00000485278.5:n.2379C= | ||
| ENST00000494883.1:n.372C= | ||
| NM_001077365.1:c.1829C= | NP_001070833.1:p.Ala610= | |
| NM_001077366.1:c.1667C= | NP_001070834.1:p.Ala556= | |
| NM_001136113.1:c.1829C= | NP_001129585.1:p.Ala610= | |
| NM_001136114.1:c.1478C= | NP_001129586.1:p.Ala493= | |
| NM_007171.3:c.1895C= | NP_009102.3:p.Ala632= | |
| XM_005272156.1:c.1895C= | XP_005272213.1:p.Ala632= | |
| XM_005272158.1:c.1733C= | XP_005272215.1:p.Ala578= | |
| XM_005272159.1:c.1544C= | XP_005272216.1:p.Ala515= | |
| XM_005272162.1:c.698C= | XP_005272219.1:p.Ala233= | |
| XM_006716932.1:c.1544C= | XP_006716995.1:p.Ala515= | |
| XM_011518140.1:c.1748C= | XP_011516442.1:p.Ala583= | |
| XM_011518141.1:c.1682C= | XP_011516443.1:p.Ala561= | |
| XM_011518142.1:c.1586C= | XP_011516444.1:p.Ala529= | |
| XM_011518143.1:c.1580C= | XP_011516445.1:p.Ala527= | |
| XM_011518145.1:c.1439C= | XP_011516447.1:p.Ala480= | |
| XM_011518147.1:c.767C= | XP_011516449.1:p.Ala256= | |
| XR_929703.1:n.2071C= | ||
| NM_001353193.1:c.1895C= | NP_001340122.1:p.Ala632= | |
| NM_001353194.1:c.1667C= | NP_001340123.1:p.Ala556= | |
| NM_001353195.1:c.1478C= | NP_001340124.1:p.Ala493= | |
| NM_001353196.1:c.1739C= | NP_001340125.1:p.Ala580= | |
| NM_001353197.1:c.1733C= | NP_001340126.1:p.Ala578= | |
| NM_001353198.1:c.1733C= | NP_001340127.1:p.Ala578= | |
| NM_001353199.1:c.1544C= | NP_001340128.1:p.Ala515= | |
| NM_001353200.1:c.1373C= | NP_001340129.1:p.Ala458= | |
| NR_148391.1:n.1879C= | ||
| NR_148392.1:n.2097C= | ||
| NR_148393.1:n.2018C= | ||
| NR_148394.1:n.1772C= | ||
| NR_148395.1:n.2170C= | ||
| NR_148396.1:n.1804C= | ||
| NR_148397.1:n.1929C= | ||
| NR_148398.1:n.1884C= | ||
| NR_148399.1:n.2410C= | ||
| NR_148400.1:n.2009C= | ||
| XM_005272162.3:c.698C= | XP_005272219.1:p.Ala233= | |
| XM_006716932.2:c.1544C= | XP_006716995.1:p.Ala515= | |
| XM_011518140.2:c.1748C= | XP_011516442.1:p.Ala583= | |
| XM_011518141.2:c.1682C= | XP_011516443.1:p.Ala561= | |
| XM_011518142.2:c.1586C= | XP_011516444.1:p.Ala529= | |
| XM_011518143.2:c.1580C= | XP_011516445.1:p.Ala527= | |
| XM_011518145.2:c.1439C= | XP_011516447.1:p.Ala480= | |
| XM_017014205.2:c.698C= | XP_016869694.1:p.Ala233= | |
| XM_024447380.1:c.698C= | XP_024303148.1:p.Ala233= | |
| XM_024447381.1:c.1004C= | XP_024303149.1:p.Ala335= | |
| XM_024447382.1:c.698C= | XP_024303150.1:p.Ala233= | |
| XR_001746160.2:n.1999C= | ||
| XR_001746162.2:n.2204C= | ||
| XR_001746164.1:n.1921C= | ||
| XR_001746166.2:n.2216C= | ||
| NM_001077365.2:c.1829C= MANE Select | NP_001070833.1:p.Ala610= | |
| NM_001077366.2:c.1667C= | NP_001070834.1:p.Ala556= | |
| NM_001136113.2:c.1829C= | NP_001129585.1:p.Ala610= | |
| NM_001136114.2:c.1478C= | NP_001129586.1:p.Ala493= | |
| NM_001353193.2:c.1895C= | NP_001340122.2:p.Ala632= | |
| NM_001353194.2:c.1667C= | NP_001340123.1:p.Ala556= | |
| NM_001353195.2:c.1478C= | NP_001340124.1:p.Ala493= | |
| NM_001353196.2:c.1739C= | NP_001340125.1:p.Ala580= | |
| NM_001353197.2:c.1733C= | NP_001340126.2:p.Ala578= | |
| NM_001353198.2:c.1733C= | NP_001340127.2:p.Ala578= | |
| NM_001353199.2:c.1544C= | NP_001340128.2:p.Ala515= | |
| NM_001353200.2:c.1373C= | NP_001340129.1:p.Ala458= | |
| NM_001374689.1:c.1817C= | NP_001361618.1:p.Ala606= | |
| NM_001374690.1:c.1610C= | NP_001361619.1:p.Ala537= | |
| NM_001374691.1:c.1478C= | NP_001361620.1:p.Ala493= | |
| NM_001374692.1:c.1478C= | NP_001361621.1:p.Ala493= | |
| NM_001374693.1:c.1478C= | NP_001361622.1:p.Ala493= | |
| NM_001374695.1:c.1439C= | NP_001361624.1:p.Ala480= | |
| NM_007171.4:c.1895C= | NP_009102.4:p.Ala632= | |
| NR_148391.2:n.1863C= | ||
| NR_148392.2:n.2081C= | ||
| NR_148393.2:n.2002C= | ||
| NR_148394.2:n.1756C= | ||
| NR_148395.2:n.2154C= | ||
| NR_148396.2:n.1788C= | ||
| NR_148397.2:n.1913C= | ||
| NR_148398.2:n.1868C= | ||
| NR_148399.2:n.2394C= | ||
| NR_148400.2:n.1993C= |