WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518499G>C , CM000671.2:g.131518499G>C | GRCh38 |
| NC_000009.11:g.134393886G>C , CM000671.1:g.134393886G>C | GRCh37 |
| NC_000009.10:g.133383707G>C | NCBI36 |
| NG_008896.1:g.20598G>C | |
| NG_008896.2:g.20598G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1165G>C | ENSP00000343034.7:p.Val389Leu | |
| ENST00000404875.7:n.1867G>C | ||
| ENST00000423007.6:c.1384G>C | ENSP00000404119.2:p.Val462Leu | |
| ENST00000677295.2:c.*1671G>C | ENSP00000504346.2:n.*1671G>C | |
| ENST00000678264.2:c.*1510G>C | ENSP00000503157.2:n.*1510G>C | |
| ENST00000682070.1:n.1792G>C | ||
| ENST00000682535.1:n.99G>C | ||
| ENST00000682539.1:c.265G>C | ||
| ENST00000682813.1:n.1592G>C | ||
| ENST00000683110.1:n.55G>C | ||
| ENST00000683392.1:n.4074G>C | ||
| ENST00000683712.1:n.1732G>C | ||
| ENST00000683900.1:n.3227G>C | ||
| ENST00000684062.1:n.1993G>C | ||
| ENST00000684579.1:n.3173G>C | ||
| ENST00000684679.1:n.554G>C | ||
| ENST00000341012.12:c.1165G>C | ENSP00000343034.7:p.Val389Leu | |
| ENST00000372220.5:c.196G>C | ENSP00000361294.5:p.Val66Leu | |
| ENST00000372228.9:c.1393G>C | ENSP00000361302.3:p.Val465Leu | |
| ENST00000402686.8:c.1327G>C MANE Select | ENSP00000385797.4:p.Val443Leu | |
| ENST00000676640.1:c.1327G>C | ENSP00000503281.1:p.Val443Leu | |
| ENST00000676803.1:c.502G>C | ENSP00000503093.1:p.Val168Leu | |
| ENST00000676835.1:c.*542G>C | ENSP00000502911.1:n.*542G>C | |
| ENST00000677029.1:c.871G>C | ENSP00000502936.1:p.Val291Leu | |
| ENST00000677099.1:c.*1037G>C | ENSP00000504553.1:n.*1037G>C | |
| ENST00000677216.1:c.976G>C | ENSP00000503772.1:p.Val326Leu | |
| ENST00000677221.1:n.352G>C | ||
| ENST00000677295.1:c.*704G>C | ENSP00000504346.1:n.*704G>C | |
| ENST00000677444.1:c.1133G>C | ||
| ENST00000677586.1:n.808G>C | ||
| ENST00000677626.1:c.976G>C | ENSP00000503552.1:p.Val326Leu | |
| ENST00000677677.1:n.1287G>C | ||
| ENST00000677853.1:c.*335G>C | ENSP00000503488.1:n.*335G>C | |
| ENST00000677983.1:n.416G>C | ||
| ENST00000678202.1:n.347G>C | ||
| ENST00000678264.1:c.*704G>C | ENSP00000503157.1:n.*704G>C | |
| ENST00000678303.1:c.1237G>C | ENSP00000503696.1:p.Val413Leu | |
| ENST00000678366.1:c.*1576G>C | ENSP00000504353.1:n.*1576G>C | |
| ENST00000678546.1:c.*1272G>C | ENSP00000503062.1:n.*1272G>C | |
| ENST00000678548.1:c.*1399G>C | ENSP00000503934.1:n.*1399G>C | |
| ENST00000678626.1:n.1024G>C | ||
| ENST00000678733.1:c.408G>C | ||
| ENST00000678739.1:c.*1653G>C | ENSP00000503806.1:n.*1653G>C | |
| ENST00000678795.1:n.414G>C | ||
| ENST00000678833.1:c.*774G>C | ENSP00000503893.1:n.*774G>C | |
| ENST00000678942.1:c.507G>C | ENSP00000504690.1:n.507G>C | |
| ENST00000679023.1:c.1165G>C | ENSP00000503718.1:p.Val389Leu | |
| ENST00000679076.1:c.946G>C | ||
| ENST00000679111.1:c.1327G>C | ENSP00000504257.1:p.Val443Leu | |
| ENST00000679189.1:c.976G>C | ENSP00000503356.1:p.Val326Leu | |
| ENST00000341012.11:c.1165G>C | ENSP00000343034.7:p.Val389Leu | |
| ENST00000372220.4:c.190G>C | ENSP00000361294.4:p.Val64Leu | |
| ENST00000372228.7:c.1393G>C | ENSP00000361302.3:p.Val465Leu | |
| ENST00000402686.7:c.1327G>C | ENSP00000385797.3:p.Val443Leu | |
| ENST00000404875.6:c.976G>C | ENSP00000384531.2:p.Val326Leu | |
| ENST00000423007.5:c.1327G>C | ENSP00000404119.1:p.Val443Leu | |
| ENST00000485278.5:n.1882G>C | ||
| NM_001077365.1:c.1327G>C | NP_001070833.1:p.Val443Leu | |
| NM_001077366.1:c.1165G>C | NP_001070834.1:p.Val389Leu | |
| NM_001136113.1:c.1327G>C | NP_001129585.1:p.Val443Leu | |
| NM_001136114.1:c.976G>C | NP_001129586.1:p.Val326Leu | |
| NM_007171.3:c.1393G>C | NP_009102.3:p.Val465Leu | |
| XM_005272156.1:c.1393G>C | XP_005272213.1:p.Val465Leu | |
| XM_005272158.1:c.1231G>C | XP_005272215.1:p.Val411Leu | |
| XM_005272159.1:c.1042G>C | XP_005272216.1:p.Val348Leu | |
| XM_005272162.1:c.196G>C | XP_005272219.1:p.Val66Leu | |
| XM_006716932.1:c.1042G>C | XP_006716995.1:p.Val348Leu | |
| XM_011518140.1:c.1246G>C | XP_011516442.1:p.Val416Leu | |
| XM_011518141.1:c.1180G>C | XP_011516443.1:p.Val394Leu | |
| XM_011518142.1:c.1084G>C | XP_011516444.1:p.Val362Leu | |
| XM_011518143.1:c.1078G>C | XP_011516445.1:p.Val360Leu | |
| XM_011518144.1:c.1393G>C | XP_011516446.1:p.Val465Leu | |
| XM_011518145.1:c.937G>C | XP_011516447.1:p.Val313Leu | |
| XM_011518146.1:c.1078G>C | XP_011516448.1:p.Val360Leu | |
| XM_011518147.1:c.265G>C | XP_011516449.1:p.Val89Leu | |
| XR_929703.1:n.1569G>C | ||
| NM_001353193.1:c.1393G>C | NP_001340122.1:p.Val465Leu | |
| NM_001353194.1:c.1165G>C | NP_001340123.1:p.Val389Leu | |
| NM_001353195.1:c.976G>C | NP_001340124.1:p.Val326Leu | |
| NM_001353196.1:c.1237G>C | NP_001340125.1:p.Val413Leu | |
| NM_001353197.1:c.1231G>C | NP_001340126.1:p.Val411Leu | |
| NM_001353198.1:c.1231G>C | NP_001340127.1:p.Val411Leu | |
| NM_001353199.1:c.1042G>C | NP_001340128.1:p.Val348Leu | |
| NM_001353200.1:c.871G>C | NP_001340129.1:p.Val291Leu | |
| NR_148391.1:n.1377G>C | ||
| NR_148392.1:n.1595G>C | ||
| NR_148393.1:n.1377G>C | ||
| NR_148394.1:n.1270G>C | ||
| NR_148395.1:n.1529G>C | ||
| NR_148396.1:n.1163G>C | ||
| NR_148397.1:n.1427G>C | ||
| NR_148398.1:n.1382G>C | ||
| NR_148399.1:n.1769G>C | ||
| NR_148400.1:n.1368G>C | ||
| XM_005272162.3:c.196G>C | XP_005272219.1:p.Val66Leu | |
| XM_006716932.2:c.1042G>C | XP_006716995.1:p.Val348Leu | |
| XM_011518140.2:c.1246G>C | XP_011516442.1:p.Val416Leu | |
| XM_011518141.2:c.1180G>C | XP_011516443.1:p.Val394Leu | |
| XM_011518142.2:c.1084G>C | XP_011516444.1:p.Val362Leu | |
| XM_011518143.2:c.1078G>C | XP_011516445.1:p.Val360Leu | |
| XM_011518145.2:c.937G>C | XP_011516447.1:p.Val313Leu | |
| XM_017014205.2:c.196G>C | XP_016869694.1:p.Val66Leu | |
| XM_024447380.1:c.196G>C | XP_024303148.1:p.Val66Leu | |
| XM_024447381.1:c.502G>C | XP_024303149.1:p.Val168Leu | |
| XM_024447382.1:c.196G>C | XP_024303150.1:p.Val66Leu | |
| XR_001746160.2:n.1497G>C | ||
| XR_001746162.2:n.1563G>C | ||
| XR_001746164.1:n.1280G>C | ||
| XR_001746166.2:n.1714G>C | ||
| NM_001077365.2:c.1327G>C MANE Select | NP_001070833.1:p.Val443Leu | |
| NM_001077366.2:c.1165G>C | NP_001070834.1:p.Val389Leu | |
| NM_001136113.2:c.1327G>C | NP_001129585.1:p.Val443Leu | |
| NM_001136114.2:c.976G>C | NP_001129586.1:p.Val326Leu | |
| NM_001353193.2:c.1393G>C | NP_001340122.2:p.Val465Leu | |
| NM_001353194.2:c.1165G>C | NP_001340123.1:p.Val389Leu | |
| NM_001353195.2:c.976G>C | NP_001340124.1:p.Val326Leu | |
| NM_001353196.2:c.1237G>C | NP_001340125.1:p.Val413Leu | |
| NM_001353197.2:c.1231G>C | NP_001340126.2:p.Val411Leu | |
| NM_001353198.2:c.1231G>C | NP_001340127.2:p.Val411Leu | |
| NM_001353199.2:c.1042G>C | NP_001340128.2:p.Val348Leu | |
| NM_001353200.2:c.871G>C | NP_001340129.1:p.Val291Leu | |
| NM_001374689.1:c.1315G>C | NP_001361618.1:p.Val439Leu | |
| NM_001374690.1:c.1327G>C | NP_001361619.1:p.Val443Leu | |
| NM_001374691.1:c.976G>C | NP_001361620.1:p.Val326Leu | |
| NM_001374692.1:c.976G>C | NP_001361621.1:p.Val326Leu | |
| NM_001374693.1:c.976G>C | NP_001361622.1:p.Val326Leu | |
| NM_001374695.1:c.937G>C | NP_001361624.1:p.Val313Leu | |
| NM_007171.4:c.1393G>C | NP_009102.4:p.Val465Leu | |
| NR_148391.2:n.1361G>C | ||
| NR_148392.2:n.1579G>C | ||
| NR_148393.2:n.1361G>C | ||
| NR_148394.2:n.1254G>C | ||
| NR_148395.2:n.1513G>C | ||
| NR_148396.2:n.1147G>C | ||
| NR_148397.2:n.1411G>C | ||
| NR_148398.2:n.1366G>C | ||
| NR_148399.2:n.1753G>C | ||
| NR_148400.2:n.1352G>C |