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.131518505T>C , CM000671.2:g.131518505T>C | GRCh38 |
| NC_000009.11:g.134393892T>C , CM000671.1:g.134393892T>C | GRCh37 |
| NC_000009.10:g.133383713T>C | NCBI36 |
| NG_008896.1:g.20604T>C | |
| NG_008896.2:g.20604T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1171T>C | ENSP00000343034.7:p.Phe391Leu | |
| ENST00000404875.7:n.1873T>C | ||
| ENST00000423007.6:c.1390T>C | ENSP00000404119.2:p.Phe464Leu | |
| ENST00000677295.2:c.*1677T>C | ENSP00000504346.2:n.*1677T>C | |
| ENST00000678264.2:c.*1516T>C | ENSP00000503157.2:n.*1516T>C | |
| ENST00000682070.1:n.1798T>C | ||
| ENST00000682535.1:n.105T>C | ||
| ENST00000682539.1:c.271T>C | ||
| ENST00000682813.1:n.1598T>C | ||
| ENST00000683110.1:n.61T>C | ||
| ENST00000683392.1:n.4080T>C | ||
| ENST00000683712.1:n.1738T>C | ||
| ENST00000683900.1:n.3233T>C | ||
| ENST00000684062.1:n.1999T>C | ||
| ENST00000684579.1:n.3179T>C | ||
| ENST00000684679.1:n.560T>C | ||
| ENST00000341012.12:c.1171T>C | ENSP00000343034.7:p.Phe391Leu | |
| ENST00000372220.5:c.202T>C | ENSP00000361294.5:p.Phe68Leu | |
| ENST00000372228.9:c.1399T>C | ENSP00000361302.3:p.Phe467Leu | |
| ENST00000402686.8:c.1333T>C MANE Select | ENSP00000385797.4:p.Phe445Leu | |
| ENST00000676640.1:c.1333T>C | ENSP00000503281.1:p.Phe445Leu | |
| ENST00000676803.1:c.508T>C | ENSP00000503093.1:p.Phe170Leu | |
| ENST00000676835.1:c.*548T>C | ENSP00000502911.1:n.*548T>C | |
| ENST00000677029.1:c.877T>C | ENSP00000502936.1:p.Phe293Leu | |
| ENST00000677099.1:c.*1043T>C | ENSP00000504553.1:n.*1043T>C | |
| ENST00000677216.1:c.982T>C | ENSP00000503772.1:p.Phe328Leu | |
| ENST00000677221.1:n.358T>C | ||
| ENST00000677295.1:c.*710T>C | ENSP00000504346.1:n.*710T>C | |
| ENST00000677444.1:c.1139T>C | ||
| ENST00000677586.1:n.814T>C | ||
| ENST00000677626.1:c.982T>C | ENSP00000503552.1:p.Phe328Leu | |
| ENST00000677677.1:n.1293T>C | ||
| ENST00000677853.1:c.*341T>C | ENSP00000503488.1:n.*341T>C | |
| ENST00000677983.1:n.422T>C | ||
| ENST00000678202.1:n.353T>C | ||
| ENST00000678264.1:c.*710T>C | ENSP00000503157.1:n.*710T>C | |
| ENST00000678303.1:c.1243T>C | ENSP00000503696.1:p.Phe415Leu | |
| ENST00000678366.1:c.*1582T>C | ENSP00000504353.1:n.*1582T>C | |
| ENST00000678546.1:c.*1278T>C | ENSP00000503062.1:n.*1278T>C | |
| ENST00000678548.1:c.*1405T>C | ENSP00000503934.1:n.*1405T>C | |
| ENST00000678626.1:n.1030T>C | ||
| ENST00000678733.1:c.414T>C | ||
| ENST00000678739.1:c.*1659T>C | ENSP00000503806.1:n.*1659T>C | |
| ENST00000678795.1:n.420T>C | ||
| ENST00000678833.1:c.*780T>C | ENSP00000503893.1:n.*780T>C | |
| ENST00000678942.1:c.513T>C | ENSP00000504690.1:n.513T>C | |
| ENST00000679023.1:c.1171T>C | ENSP00000503718.1:p.Phe391Leu | |
| ENST00000679076.1:c.952T>C | ||
| ENST00000679111.1:c.1333T>C | ENSP00000504257.1:p.Phe445Leu | |
| ENST00000679189.1:c.982T>C | ENSP00000503356.1:p.Phe328Leu | |
| ENST00000341012.11:c.1171T>C | ENSP00000343034.7:p.Phe391Leu | |
| ENST00000372220.4:c.196T>C | ENSP00000361294.4:p.Phe66Leu | |
| ENST00000372228.7:c.1399T>C | ENSP00000361302.3:p.Phe467Leu | |
| ENST00000402686.7:c.1333T>C | ENSP00000385797.3:p.Phe445Leu | |
| ENST00000404875.6:c.982T>C | ENSP00000384531.2:p.Phe328Leu | |
| ENST00000423007.5:c.1333T>C | ENSP00000404119.1:p.Phe445Leu | |
| ENST00000485278.5:n.1888T>C | ||
| NM_001077365.1:c.1333T>C | NP_001070833.1:p.Phe445Leu | |
| NM_001077366.1:c.1171T>C | NP_001070834.1:p.Phe391Leu | |
| NM_001136113.1:c.1333T>C | NP_001129585.1:p.Phe445Leu | |
| NM_001136114.1:c.982T>C | NP_001129586.1:p.Phe328Leu | |
| NM_007171.3:c.1399T>C | NP_009102.3:p.Phe467Leu | |
| XM_005272156.1:c.1399T>C | XP_005272213.1:p.Phe467Leu | |
| XM_005272158.1:c.1237T>C | XP_005272215.1:p.Phe413Leu | |
| XM_005272159.1:c.1048T>C | XP_005272216.1:p.Phe350Leu | |
| XM_005272162.1:c.202T>C | XP_005272219.1:p.Phe68Leu | |
| XM_006716932.1:c.1048T>C | XP_006716995.1:p.Phe350Leu | |
| XM_011518140.1:c.1252T>C | XP_011516442.1:p.Phe418Leu | |
| XM_011518141.1:c.1186T>C | XP_011516443.1:p.Phe396Leu | |
| XM_011518142.1:c.1090T>C | XP_011516444.1:p.Phe364Leu | |
| XM_011518143.1:c.1084T>C | XP_011516445.1:p.Phe362Leu | |
| XM_011518144.1:c.1399T>C | XP_011516446.1:p.Phe467Leu | |
| XM_011518145.1:c.943T>C | XP_011516447.1:p.Phe315Leu | |
| XM_011518146.1:c.1084T>C | XP_011516448.1:p.Phe362Leu | |
| XM_011518147.1:c.271T>C | XP_011516449.1:p.Phe91Leu | |
| XR_929703.1:n.1575T>C | ||
| NM_001353193.1:c.1399T>C | NP_001340122.1:p.Phe467Leu | |
| NM_001353194.1:c.1171T>C | NP_001340123.1:p.Phe391Leu | |
| NM_001353195.1:c.982T>C | NP_001340124.1:p.Phe328Leu | |
| NM_001353196.1:c.1243T>C | NP_001340125.1:p.Phe415Leu | |
| NM_001353197.1:c.1237T>C | NP_001340126.1:p.Phe413Leu | |
| NM_001353198.1:c.1237T>C | NP_001340127.1:p.Phe413Leu | |
| NM_001353199.1:c.1048T>C | NP_001340128.1:p.Phe350Leu | |
| NM_001353200.1:c.877T>C | NP_001340129.1:p.Phe293Leu | |
| NR_148391.1:n.1383T>C | ||
| NR_148392.1:n.1601T>C | ||
| NR_148393.1:n.1383T>C | ||
| NR_148394.1:n.1276T>C | ||
| NR_148395.1:n.1535T>C | ||
| NR_148396.1:n.1169T>C | ||
| NR_148397.1:n.1433T>C | ||
| NR_148398.1:n.1388T>C | ||
| NR_148399.1:n.1775T>C | ||
| NR_148400.1:n.1374T>C | ||
| XM_005272162.3:c.202T>C | XP_005272219.1:p.Phe68Leu | |
| XM_006716932.2:c.1048T>C | XP_006716995.1:p.Phe350Leu | |
| XM_011518140.2:c.1252T>C | XP_011516442.1:p.Phe418Leu | |
| XM_011518141.2:c.1186T>C | XP_011516443.1:p.Phe396Leu | |
| XM_011518142.2:c.1090T>C | XP_011516444.1:p.Phe364Leu | |
| XM_011518143.2:c.1084T>C | XP_011516445.1:p.Phe362Leu | |
| XM_011518145.2:c.943T>C | XP_011516447.1:p.Phe315Leu | |
| XM_017014205.2:c.202T>C | XP_016869694.1:p.Phe68Leu | |
| XM_024447380.1:c.202T>C | XP_024303148.1:p.Phe68Leu | |
| XM_024447381.1:c.508T>C | XP_024303149.1:p.Phe170Leu | |
| XM_024447382.1:c.202T>C | XP_024303150.1:p.Phe68Leu | |
| XR_001746160.2:n.1503T>C | ||
| XR_001746162.2:n.1569T>C | ||
| XR_001746164.1:n.1286T>C | ||
| XR_001746166.2:n.1720T>C | ||
| NM_001077365.2:c.1333T>C MANE Select | NP_001070833.1:p.Phe445Leu | |
| NM_001077366.2:c.1171T>C | NP_001070834.1:p.Phe391Leu | |
| NM_001136113.2:c.1333T>C | NP_001129585.1:p.Phe445Leu | |
| NM_001136114.2:c.982T>C | NP_001129586.1:p.Phe328Leu | |
| NM_001353193.2:c.1399T>C | NP_001340122.2:p.Phe467Leu | |
| NM_001353194.2:c.1171T>C | NP_001340123.1:p.Phe391Leu | |
| NM_001353195.2:c.982T>C | NP_001340124.1:p.Phe328Leu | |
| NM_001353196.2:c.1243T>C | NP_001340125.1:p.Phe415Leu | |
| NM_001353197.2:c.1237T>C | NP_001340126.2:p.Phe413Leu | |
| NM_001353198.2:c.1237T>C | NP_001340127.2:p.Phe413Leu | |
| NM_001353199.2:c.1048T>C | NP_001340128.2:p.Phe350Leu | |
| NM_001353200.2:c.877T>C | NP_001340129.1:p.Phe293Leu | |
| NM_001374689.1:c.1321T>C | NP_001361618.1:p.Phe441Leu | |
| NM_001374690.1:c.1333T>C | NP_001361619.1:p.Phe445Leu | |
| NM_001374691.1:c.982T>C | NP_001361620.1:p.Phe328Leu | |
| NM_001374692.1:c.982T>C | NP_001361621.1:p.Phe328Leu | |
| NM_001374693.1:c.982T>C | NP_001361622.1:p.Phe328Leu | |
| NM_001374695.1:c.943T>C | NP_001361624.1:p.Phe315Leu | |
| NM_007171.4:c.1399T>C | NP_009102.4:p.Phe467Leu | |
| NR_148391.2:n.1367T>C | ||
| NR_148392.2:n.1585T>C | ||
| NR_148393.2:n.1367T>C | ||
| NR_148394.2:n.1260T>C | ||
| NR_148395.2:n.1519T>C | ||
| NR_148396.2:n.1153T>C | ||
| NR_148397.2:n.1417T>C | ||
| NR_148398.2:n.1372T>C | ||
| NR_148399.2:n.1759T>C | ||
| NR_148400.2:n.1358T>C |