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.131513291G= , CM000671.2:g.131513291G= | GRCh38 |
| NC_000009.11:g.134388678G= , CM000671.1:g.134388678G= | GRCh37 |
| NC_000009.10:g.133378499G= | NCBI36 |
| NG_008896.1:g.15390G= | |
| NG_008896.2:g.15390G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.973G= | ENSP00000343034.7:p.Val325= | |
| ENST00000404875.7:n.1675G= | ||
| ENST00000423007.6:c.1192G= | ENSP00000404119.2:p.Val398= | |
| ENST00000677295.2:c.*1479G= | ENSP00000504346.2:n.*1479G= | |
| ENST00000678264.2:c.*1318G= | ENSP00000503157.2:n.*1318G= | |
| ENST00000682070.1:n.1600G= | ||
| ENST00000682813.1:n.1400G= | ||
| ENST00000683392.1:n.3882G= | ||
| ENST00000683712.1:n.1540G= | ||
| ENST00000683900.1:n.3035G= | ||
| ENST00000684062.1:n.1801G= | ||
| ENST00000684579.1:n.2981G= | ||
| ENST00000341012.12:c.973G= | ENSP00000343034.7:p.Val325= | |
| ENST00000372220.5:c.4G= | ENSP00000361294.5:p.Val2= | |
| ENST00000372228.9:c.1201G= | ENSP00000361302.3:p.Val401= | |
| ENST00000402686.8:c.1135G= MANE Select | ENSP00000385797.4:p.Val379= | |
| ENST00000676640.1:c.1135G= | ENSP00000503281.1:p.Val379= | |
| ENST00000676803.1:c.310G= | ENSP00000503093.1:p.Val104= | |
| ENST00000676835.1:c.*350G= | ENSP00000502911.1:n.*350G= | |
| ENST00000677029.1:c.679G= | ENSP00000502936.1:p.Val227= | |
| ENST00000677099.1:c.*845G= | ENSP00000504553.1:n.*845G= | |
| ENST00000677216.1:c.784G= | ENSP00000503772.1:p.Val262= | |
| ENST00000677293.1:c.310G= | ENSP00000504278.1:p.Val104= | |
| ENST00000677295.1:c.*512G= | ENSP00000504346.1:n.*512G= | |
| ENST00000677444.1:c.941G= | ||
| ENST00000677586.1:n.616G= | ||
| ENST00000677626.1:c.824+1824G= | ENSP00000503552.1:n.824+1824G= | |
| ENST00000677677.1:n.1095G= | ||
| ENST00000677853.1:c.*143G= | ENSP00000503488.1:n.*143G= | |
| ENST00000677944.1:c.397G= | ||
| ENST00000678264.1:c.*512G= | ENSP00000503157.1:n.*512G= | |
| ENST00000678303.1:c.1045G= | ENSP00000503696.1:p.Val349= | |
| ENST00000678366.1:c.*1384G= | ENSP00000504353.1:n.*1384G= | |
| ENST00000678546.1:c.*1080G= | ENSP00000503062.1:n.*1080G= | |
| ENST00000678548.1:c.*1207G= | ENSP00000503934.1:n.*1207G= | |
| ENST00000678626.1:n.832G= | ||
| ENST00000678733.1:c.256+1155G= | ||
| ENST00000678739.1:c.*1461G= | ENSP00000503806.1:n.*1461G= | |
| ENST00000678795.1:n.222G= | ||
| ENST00000678833.1:c.*582G= | ENSP00000503893.1:n.*582G= | |
| ENST00000678942.1:c.315G= | ENSP00000504690.1:n.315G= | |
| ENST00000679023.1:c.973G= | ENSP00000503718.1:p.Val325= | |
| ENST00000679073.1:c.513G= | ENSP00000504356.1:n.513G= | |
| ENST00000679076.1:c.754G= | ||
| ENST00000679111.1:c.1135G= | ENSP00000504257.1:p.Val379= | |
| ENST00000679189.1:c.784G= | ENSP00000503356.1:p.Val262= | |
| ENST00000341012.11:c.973G= | ENSP00000343034.7:p.Val325= | |
| ENST00000372228.7:c.1201G= | ENSP00000361302.3:p.Val401= | |
| ENST00000402686.7:c.1135G= | ENSP00000385797.3:p.Val379= | |
| ENST00000404875.6:c.784G= | ENSP00000384531.2:p.Val262= | |
| ENST00000423007.5:c.1135G= | ENSP00000404119.1:p.Val379= | |
| ENST00000441334.5:c.850G= | ENSP00000395060.1:p.Val284= | |
| ENST00000462375.5:n.961G= | ||
| ENST00000485278.5:n.1690G= | ||
| NM_001077365.1:c.1135G= | NP_001070833.1:p.Val379= | |
| NM_001077366.1:c.973G= | NP_001070834.1:p.Val325= | |
| NM_001136113.1:c.1135G= | NP_001129585.1:p.Val379= | |
| NM_001136114.1:c.784G= | NP_001129586.1:p.Val262= | |
| NM_007171.3:c.1201G= | NP_009102.3:p.Val401= | |
| XM_005272156.1:c.1201G= | XP_005272213.1:p.Val401= | |
| XM_005272158.1:c.1039G= | XP_005272215.1:p.Val347= | |
| XM_005272159.1:c.850G= | XP_005272216.1:p.Val284= | |
| XM_005272162.1:c.4G= | XP_005272219.1:p.Val2= | |
| XM_006716932.1:c.850G= | XP_006716995.1:p.Val284= | |
| XM_011518140.1:c.1054G= | XP_011516442.1:p.Val352= | |
| XM_011518141.1:c.988G= | XP_011516443.1:p.Val330= | |
| XM_011518142.1:c.892G= | XP_011516444.1:p.Val298= | |
| XM_011518143.1:c.886G= | XP_011516445.1:p.Val296= | |
| XM_011518144.1:c.1201G= | XP_011516446.1:p.Val401= | |
| XM_011518145.1:c.745G= | XP_011516447.1:p.Val249= | |
| XM_011518146.1:c.886G= | XP_011516448.1:p.Val296= | |
| XR_929703.1:n.1377G= | ||
| NM_001353193.1:c.1201G= | NP_001340122.1:p.Val401= | |
| NM_001353194.1:c.973G= | NP_001340123.1:p.Val325= | |
| NM_001353195.1:c.784G= | NP_001340124.1:p.Val262= | |
| NM_001353196.1:c.1045G= | NP_001340125.1:p.Val349= | |
| NM_001353197.1:c.1039G= | NP_001340126.1:p.Val347= | |
| NM_001353198.1:c.1039G= | NP_001340127.1:p.Val347= | |
| NM_001353199.1:c.850G= | NP_001340128.1:p.Val284= | |
| NM_001353200.1:c.679G= | NP_001340129.1:p.Val227= | |
| NR_148391.1:n.1185G= | ||
| NR_148392.1:n.1403G= | ||
| NR_148393.1:n.1185G= | ||
| NR_148394.1:n.1078G= | ||
| NR_148395.1:n.1337G= | ||
| NR_148396.1:n.971G= | ||
| NR_148397.1:n.1235G= | ||
| NR_148398.1:n.1190G= | ||
| NR_148399.1:n.1577G= | ||
| NR_148400.1:n.1176G= | ||
| XM_005272162.3:c.4G= | XP_005272219.1:p.Val2= | |
| XM_006716932.2:c.850G= | XP_006716995.1:p.Val284= | |
| XM_011518140.2:c.1054G= | XP_011516442.1:p.Val352= | |
| XM_011518141.2:c.988G= | XP_011516443.1:p.Val330= | |
| XM_011518142.2:c.892G= | XP_011516444.1:p.Val298= | |
| XM_011518143.2:c.886G= | XP_011516445.1:p.Val296= | |
| XM_011518145.2:c.745G= | XP_011516447.1:p.Val249= | |
| XM_017014205.2:c.4G= | XP_016869694.1:p.Val2= | |
| XM_024447380.1:c.4G= | XP_024303148.1:p.Val2= | |
| XM_024447381.1:c.310G= | XP_024303149.1:p.Val104= | |
| XM_024447382.1:c.4G= | XP_024303150.1:p.Val2= | |
| XR_001746160.2:n.1305G= | ||
| XR_001746162.2:n.1371G= | ||
| XR_001746164.1:n.1088G= | ||
| XR_001746166.2:n.1522G= | ||
| NM_001077365.2:c.1135G= MANE Select | NP_001070833.1:p.Val379= | |
| NM_001077366.2:c.973G= | NP_001070834.1:p.Val325= | |
| NM_001136113.2:c.1135G= | NP_001129585.1:p.Val379= | |
| NM_001136114.2:c.784G= | NP_001129586.1:p.Val262= | |
| NM_001353193.2:c.1201G= | NP_001340122.2:p.Val401= | |
| NM_001353194.2:c.973G= | NP_001340123.1:p.Val325= | |
| NM_001353195.2:c.784G= | NP_001340124.1:p.Val262= | |
| NM_001353196.2:c.1045G= | NP_001340125.1:p.Val349= | |
| NM_001353197.2:c.1039G= | NP_001340126.2:p.Val347= | |
| NM_001353198.2:c.1039G= | NP_001340127.2:p.Val347= | |
| NM_001353199.2:c.850G= | NP_001340128.2:p.Val284= | |
| NM_001353200.2:c.679G= | NP_001340129.1:p.Val227= | |
| NM_001374689.1:c.1123G= | NP_001361618.1:p.Val375= | |
| NM_001374690.1:c.1135G= | NP_001361619.1:p.Val379= | |
| NM_001374691.1:c.784G= | NP_001361620.1:p.Val262= | |
| NM_001374692.1:c.784G= | NP_001361621.1:p.Val262= | |
| NM_001374693.1:c.824+1824G= | NP_001361622.1:n.824+1824G= | |
| NM_001374695.1:c.745G= | NP_001361624.1:p.Val249= | |
| NM_007171.4:c.1201G= | NP_009102.4:p.Val401= | |
| NR_148391.2:n.1169G= | ||
| NR_148392.2:n.1387G= | ||
| NR_148393.2:n.1169G= | ||
| NR_148394.2:n.1062G= | ||
| NR_148395.2:n.1321G= | ||
| NR_148396.2:n.955G= | ||
| NR_148397.2:n.1219G= | ||
| NR_148398.2:n.1174G= | ||
| NR_148399.2:n.1561G= | ||
| NR_148400.2:n.1160G= |