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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522079C= , CM000671.2:g.131522079C= | GRCh38 |
| NC_000009.11:g.134397466C= , CM000671.1:g.134397466C= | GRCh37 |
| NC_000009.10:g.133387287C= | NCBI36 |
| NG_008896.1:g.24178C= | |
| NG_008896.2:g.24178C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1696C= | ENSP00000343034.7:p.Leu566= | |
| ENST00000404875.7:n.2398C= | ||
| ENST00000423007.6:c.1915C= | ENSP00000404119.2:p.Leu639= | |
| ENST00000677295.2:c.*2202C= | ENSP00000504346.2:n.*2202C= | |
| ENST00000678264.2:c.*2041C= | ENSP00000503157.2:n.*2041C= | |
| ENST00000682070.1:n.2291-123C= | ||
| ENST00000682813.1:n.2262C= | ||
| ENST00000683392.1:n.4573-123C= | ||
| ENST00000683712.1:n.2263C= | ||
| ENST00000683900.1:n.3758C= | ||
| ENST00000684062.1:n.2524C= | ||
| ENST00000684579.1:n.3704C= | ||
| ENST00000684679.1:n.1085C= | ||
| ENST00000341012.12:c.1696C= | ENSP00000343034.7:p.Leu566= | |
| ENST00000372220.5:c.727C= | ENSP00000361294.5:p.Leu243= | |
| ENST00000372228.9:c.1924C= | ENSP00000361302.3:p.Leu642= | |
| ENST00000402686.8:c.1858C= MANE Select | ENSP00000385797.4:p.Leu620= | |
| ENST00000676640.1:c.1858C= | ENSP00000503281.1:p.Leu620= | |
| ENST00000676803.1:c.919C= | ENSP00000503093.1:p.Leu307= | |
| ENST00000676835.1:c.*1073C= | ENSP00000502911.1:n.*1073C= | |
| ENST00000677029.1:c.1402C= | ENSP00000502936.1:p.Leu468= | |
| ENST00000677099.1:c.*1568C= | ENSP00000504553.1:n.*1568C= | |
| ENST00000677216.1:c.1507C= | ENSP00000503772.1:p.Leu503= | |
| ENST00000677221.1:n.883C= | ||
| ENST00000677295.1:c.*1203-123C= | ENSP00000504346.1:n.*1203-123C= | |
| ENST00000677444.1:c.1803C= | ||
| ENST00000677586.1:n.1225C= | ||
| ENST00000677626.1:c.1507C= | ENSP00000503552.1:p.Leu503= | |
| ENST00000677853.1:c.*866C= | ENSP00000503488.1:n.*866C= | |
| ENST00000678202.1:n.1017C= | ||
| ENST00000678264.1:c.*1235C= | ENSP00000503157.1:n.*1235C= | |
| ENST00000678303.1:c.1768C= | ENSP00000503696.1:p.Leu590= | |
| ENST00000678366.1:c.*2107C= | ENSP00000504353.1:n.*2107C= | |
| ENST00000678546.1:c.*1803C= | ENSP00000503062.1:n.*1803C= | |
| ENST00000678548.1:c.*1997C= | ENSP00000503934.1:n.*1997C= | |
| ENST00000678626.1:n.1694C= | ||
| ENST00000678739.1:c.*2147-123C= | ENSP00000503806.1:n.*2147-123C= | |
| ENST00000678833.1:c.*1610C= | ENSP00000503893.1:n.*1610C= | |
| ENST00000679023.1:c.1696C= | ENSP00000503718.1:p.Leu566= | |
| ENST00000679076.1:c.1477C= | ||
| ENST00000679111.1:c.*614C= | ENSP00000504257.1:n.*614C= | |
| ENST00000679189.1:c.1507C= | ENSP00000503356.1:p.Leu503= | |
| ENST00000341012.11:c.1696C= | ENSP00000343034.7:p.Leu566= | |
| ENST00000372220.4:c.721C= | ENSP00000361294.4:p.Leu241= | |
| ENST00000372228.7:c.1924C= | ENSP00000361302.3:p.Leu642= | |
| ENST00000402686.7:c.1858C= | ENSP00000385797.3:p.Leu620= | |
| ENST00000404875.6:c.1507C= | ENSP00000384531.2:p.Leu503= | |
| ENST00000423007.5:c.1858C= | ENSP00000404119.1:p.Leu620= | |
| ENST00000485278.5:n.2408C= | ||
| ENST00000494883.1:n.401C= | ||
| NM_001077365.1:c.1858C= | NP_001070833.1:p.Leu620= | |
| NM_001077366.1:c.1696C= | NP_001070834.1:p.Leu566= | |
| NM_001136113.1:c.1858C= | NP_001129585.1:p.Leu620= | |
| NM_001136114.1:c.1507C= | NP_001129586.1:p.Leu503= | |
| NM_007171.3:c.1924C= | NP_009102.3:p.Leu642= | |
| XM_005272156.1:c.1924C= | XP_005272213.1:p.Leu642= | |
| XM_005272158.1:c.1762C= | XP_005272215.1:p.Leu588= | |
| XM_005272159.1:c.1573C= | XP_005272216.1:p.Leu525= | |
| XM_005272162.1:c.727C= | XP_005272219.1:p.Leu243= | |
| XM_006716932.1:c.1573C= | XP_006716995.1:p.Leu525= | |
| XM_011518140.1:c.1777C= | XP_011516442.1:p.Leu593= | |
| XM_011518141.1:c.1711C= | XP_011516443.1:p.Leu571= | |
| XM_011518142.1:c.1615C= | XP_011516444.1:p.Leu539= | |
| XM_011518143.1:c.1609C= | XP_011516445.1:p.Leu537= | |
| XM_011518145.1:c.1468C= | XP_011516447.1:p.Leu490= | |
| XM_011518147.1:c.796C= | XP_011516449.1:p.Leu266= | |
| XR_929703.1:n.2100C= | ||
| NM_001353193.1:c.1924C= | NP_001340122.1:p.Leu642= | |
| NM_001353194.1:c.1696C= | NP_001340123.1:p.Leu566= | |
| NM_001353195.1:c.1507C= | NP_001340124.1:p.Leu503= | |
| NM_001353196.1:c.1768C= | NP_001340125.1:p.Leu590= | |
| NM_001353197.1:c.1762C= | NP_001340126.1:p.Leu588= | |
| NM_001353198.1:c.1762C= | NP_001340127.1:p.Leu588= | |
| NM_001353199.1:c.1573C= | NP_001340128.1:p.Leu525= | |
| NM_001353200.1:c.1402C= | NP_001340129.1:p.Leu468= | |
| NR_148391.1:n.1908C= | ||
| NR_148392.1:n.2126C= | ||
| NR_148393.1:n.2047C= | ||
| NR_148394.1:n.1801C= | ||
| NR_148395.1:n.2199C= | ||
| NR_148396.1:n.1833C= | ||
| NR_148397.1:n.1958C= | ||
| NR_148398.1:n.1913C= | ||
| NR_148399.1:n.2439C= | ||
| NR_148400.1:n.2038C= | ||
| XM_005272162.3:c.727C= | XP_005272219.1:p.Leu243= | |
| XM_006716932.2:c.1573C= | XP_006716995.1:p.Leu525= | |
| XM_011518140.2:c.1777C= | XP_011516442.1:p.Leu593= | |
| XM_011518141.2:c.1711C= | XP_011516443.1:p.Leu571= | |
| XM_011518142.2:c.1615C= | XP_011516444.1:p.Leu539= | |
| XM_011518143.2:c.1609C= | XP_011516445.1:p.Leu537= | |
| XM_011518145.2:c.1468C= | XP_011516447.1:p.Leu490= | |
| XM_017014205.2:c.727C= | XP_016869694.1:p.Leu243= | |
| XM_024447380.1:c.727C= | XP_024303148.1:p.Leu243= | |
| XM_024447381.1:c.1033C= | XP_024303149.1:p.Leu345= | |
| XM_024447382.1:c.727C= | XP_024303150.1:p.Leu243= | |
| XR_001746160.2:n.2028C= | ||
| XR_001746162.2:n.2233C= | ||
| XR_001746164.1:n.1950C= | ||
| XR_001746166.2:n.2245C= | ||
| NM_001077365.2:c.1858C= MANE Select | NP_001070833.1:p.Leu620= | |
| NM_001077366.2:c.1696C= | NP_001070834.1:p.Leu566= | |
| NM_001136113.2:c.1858C= | NP_001129585.1:p.Leu620= | |
| NM_001136114.2:c.1507C= | NP_001129586.1:p.Leu503= | |
| NM_001353193.2:c.1924C= | NP_001340122.2:p.Leu642= | |
| NM_001353194.2:c.1696C= | NP_001340123.1:p.Leu566= | |
| NM_001353195.2:c.1507C= | NP_001340124.1:p.Leu503= | |
| NM_001353196.2:c.1768C= | NP_001340125.1:p.Leu590= | |
| NM_001353197.2:c.1762C= | NP_001340126.2:p.Leu588= | |
| NM_001353198.2:c.1762C= | NP_001340127.2:p.Leu588= | |
| NM_001353199.2:c.1573C= | NP_001340128.2:p.Leu525= | |
| NM_001353200.2:c.1402C= | NP_001340129.1:p.Leu468= | |
| NM_001374689.1:c.1846C= | NP_001361618.1:p.Leu616= | |
| NM_001374690.1:c.1639C= | NP_001361619.1:p.Leu547= | |
| NM_001374691.1:c.1507C= | NP_001361620.1:p.Leu503= | |
| NM_001374692.1:c.1507C= | NP_001361621.1:p.Leu503= | |
| NM_001374693.1:c.1507C= | NP_001361622.1:p.Leu503= | |
| NM_001374695.1:c.1468C= | NP_001361624.1:p.Leu490= | |
| NM_007171.4:c.1924C= | NP_009102.4:p.Leu642= | |
| NR_148391.2:n.1892C= | ||
| NR_148392.2:n.2110C= | ||
| NR_148393.2:n.2031C= | ||
| NR_148394.2:n.1785C= | ||
| NR_148395.2:n.2183C= | ||
| NR_148396.2:n.1817C= | ||
| NR_148397.2:n.1942C= | ||
| NR_148398.2:n.1897C= | ||
| NR_148399.2:n.2423C= | ||
| NR_148400.2:n.2022C= |