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.131522048T= , CM000671.2:g.131522048T= | GRCh38 |
| NC_000009.11:g.134397435T= , CM000671.1:g.134397435T= | GRCh37 |
| NC_000009.10:g.133387256T= | NCBI36 |
| NG_008896.1:g.24147T= | |
| NG_008896.2:g.24147T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1665T= | ENSP00000343034.7:p.Asp555= | |
| ENST00000404875.7:n.2367T= | ||
| ENST00000423007.6:c.1884T= | ENSP00000404119.2:p.Asp628= | |
| ENST00000677295.2:c.*2171T= | ENSP00000504346.2:n.*2171T= | |
| ENST00000678264.2:c.*2010T= | ENSP00000503157.2:n.*2010T= | |
| ENST00000682070.1:n.2291-154T= | ||
| ENST00000682813.1:n.2231T= | ||
| ENST00000683392.1:n.4573-154T= | ||
| ENST00000683712.1:n.2232T= | ||
| ENST00000683900.1:n.3727T= | ||
| ENST00000684062.1:n.2493T= | ||
| ENST00000684579.1:n.3673T= | ||
| ENST00000684679.1:n.1054T= | ||
| ENST00000341012.12:c.1665T= | ENSP00000343034.7:p.Asp555= | |
| ENST00000372220.5:c.696T= | ENSP00000361294.5:p.Asp232= | |
| ENST00000372228.9:c.1893T= | ENSP00000361302.3:p.Asp631= | |
| ENST00000402686.8:c.1827T= MANE Select | ENSP00000385797.4:p.Asp609= | |
| ENST00000676640.1:c.1827T= | ENSP00000503281.1:p.Asp609= | |
| ENST00000676803.1:c.888T= | ENSP00000503093.1:p.Asp296= | |
| ENST00000676835.1:c.*1042T= | ENSP00000502911.1:n.*1042T= | |
| ENST00000677029.1:c.1371T= | ENSP00000502936.1:p.Asp457= | |
| ENST00000677099.1:c.*1537T= | ENSP00000504553.1:n.*1537T= | |
| ENST00000677216.1:c.1476T= | ENSP00000503772.1:p.Asp492= | |
| ENST00000677221.1:n.852T= | ||
| ENST00000677295.1:c.*1203-154T= | ENSP00000504346.1:n.*1203-154T= | |
| ENST00000677444.1:c.1772T= | ||
| ENST00000677586.1:n.1194T= | ||
| ENST00000677626.1:c.1476T= | ENSP00000503552.1:p.Asp492= | |
| ENST00000677853.1:c.*835T= | ENSP00000503488.1:n.*835T= | |
| ENST00000678202.1:n.986T= | ||
| ENST00000678264.1:c.*1204T= | ENSP00000503157.1:n.*1204T= | |
| ENST00000678303.1:c.1737T= | ENSP00000503696.1:p.Asp579= | |
| ENST00000678366.1:c.*2076T= | ENSP00000504353.1:n.*2076T= | |
| ENST00000678546.1:c.*1772T= | ENSP00000503062.1:n.*1772T= | |
| ENST00000678548.1:c.*1966T= | ENSP00000503934.1:n.*1966T= | |
| ENST00000678626.1:n.1663T= | ||
| ENST00000678739.1:c.*2147-154T= | ENSP00000503806.1:n.*2147-154T= | |
| ENST00000678833.1:c.*1579T= | ENSP00000503893.1:n.*1579T= | |
| ENST00000679023.1:c.1665T= | ENSP00000503718.1:p.Asp555= | |
| ENST00000679076.1:c.1446T= | ||
| ENST00000679111.1:c.*583T= | ENSP00000504257.1:n.*583T= | |
| ENST00000679189.1:c.1476T= | ENSP00000503356.1:p.Asp492= | |
| ENST00000341012.11:c.1665T= | ENSP00000343034.7:p.Asp555= | |
| ENST00000372220.4:c.690T= | ENSP00000361294.4:p.Asp230= | |
| ENST00000372228.7:c.1893T= | ENSP00000361302.3:p.Asp631= | |
| ENST00000402686.7:c.1827T= | ENSP00000385797.3:p.Asp609= | |
| ENST00000404875.6:c.1476T= | ENSP00000384531.2:p.Asp492= | |
| ENST00000423007.5:c.1827T= | ENSP00000404119.1:p.Asp609= | |
| ENST00000485278.5:n.2377T= | ||
| ENST00000494883.1:n.370T= | ||
| NM_001077365.1:c.1827T= | NP_001070833.1:p.Asp609= | |
| NM_001077366.1:c.1665T= | NP_001070834.1:p.Asp555= | |
| NM_001136113.1:c.1827T= | NP_001129585.1:p.Asp609= | |
| NM_001136114.1:c.1476T= | NP_001129586.1:p.Asp492= | |
| NM_007171.3:c.1893T= | NP_009102.3:p.Asp631= | |
| XM_005272156.1:c.1893T= | XP_005272213.1:p.Asp631= | |
| XM_005272158.1:c.1731T= | XP_005272215.1:p.Asp577= | |
| XM_005272159.1:c.1542T= | XP_005272216.1:p.Asp514= | |
| XM_005272162.1:c.696T= | XP_005272219.1:p.Asp232= | |
| XM_006716932.1:c.1542T= | XP_006716995.1:p.Asp514= | |
| XM_011518140.1:c.1746T= | XP_011516442.1:p.Asp582= | |
| XM_011518141.1:c.1680T= | XP_011516443.1:p.Asp560= | |
| XM_011518142.1:c.1584T= | XP_011516444.1:p.Asp528= | |
| XM_011518143.1:c.1578T= | XP_011516445.1:p.Asp526= | |
| XM_011518145.1:c.1437T= | XP_011516447.1:p.Asp479= | |
| XM_011518147.1:c.765T= | XP_011516449.1:p.Asp255= | |
| XR_929703.1:n.2069T= | ||
| NM_001353193.1:c.1893T= | NP_001340122.1:p.Asp631= | |
| NM_001353194.1:c.1665T= | NP_001340123.1:p.Asp555= | |
| NM_001353195.1:c.1476T= | NP_001340124.1:p.Asp492= | |
| NM_001353196.1:c.1737T= | NP_001340125.1:p.Asp579= | |
| NM_001353197.1:c.1731T= | NP_001340126.1:p.Asp577= | |
| NM_001353198.1:c.1731T= | NP_001340127.1:p.Asp577= | |
| NM_001353199.1:c.1542T= | NP_001340128.1:p.Asp514= | |
| NM_001353200.1:c.1371T= | NP_001340129.1:p.Asp457= | |
| NR_148391.1:n.1877T= | ||
| NR_148392.1:n.2095T= | ||
| NR_148393.1:n.2016T= | ||
| NR_148394.1:n.1770T= | ||
| NR_148395.1:n.2168T= | ||
| NR_148396.1:n.1802T= | ||
| NR_148397.1:n.1927T= | ||
| NR_148398.1:n.1882T= | ||
| NR_148399.1:n.2408T= | ||
| NR_148400.1:n.2007T= | ||
| XM_005272162.3:c.696T= | XP_005272219.1:p.Asp232= | |
| XM_006716932.2:c.1542T= | XP_006716995.1:p.Asp514= | |
| XM_011518140.2:c.1746T= | XP_011516442.1:p.Asp582= | |
| XM_011518141.2:c.1680T= | XP_011516443.1:p.Asp560= | |
| XM_011518142.2:c.1584T= | XP_011516444.1:p.Asp528= | |
| XM_011518143.2:c.1578T= | XP_011516445.1:p.Asp526= | |
| XM_011518145.2:c.1437T= | XP_011516447.1:p.Asp479= | |
| XM_017014205.2:c.696T= | XP_016869694.1:p.Asp232= | |
| XM_024447380.1:c.696T= | XP_024303148.1:p.Asp232= | |
| XM_024447381.1:c.1002T= | XP_024303149.1:p.Asp334= | |
| XM_024447382.1:c.696T= | XP_024303150.1:p.Asp232= | |
| XR_001746160.2:n.1997T= | ||
| XR_001746162.2:n.2202T= | ||
| XR_001746164.1:n.1919T= | ||
| XR_001746166.2:n.2214T= | ||
| NM_001077365.2:c.1827T= MANE Select | NP_001070833.1:p.Asp609= | |
| NM_001077366.2:c.1665T= | NP_001070834.1:p.Asp555= | |
| NM_001136113.2:c.1827T= | NP_001129585.1:p.Asp609= | |
| NM_001136114.2:c.1476T= | NP_001129586.1:p.Asp492= | |
| NM_001353193.2:c.1893T= | NP_001340122.2:p.Asp631= | |
| NM_001353194.2:c.1665T= | NP_001340123.1:p.Asp555= | |
| NM_001353195.2:c.1476T= | NP_001340124.1:p.Asp492= | |
| NM_001353196.2:c.1737T= | NP_001340125.1:p.Asp579= | |
| NM_001353197.2:c.1731T= | NP_001340126.2:p.Asp577= | |
| NM_001353198.2:c.1731T= | NP_001340127.2:p.Asp577= | |
| NM_001353199.2:c.1542T= | NP_001340128.2:p.Asp514= | |
| NM_001353200.2:c.1371T= | NP_001340129.1:p.Asp457= | |
| NM_001374689.1:c.1815T= | NP_001361618.1:p.Asp605= | |
| NM_001374690.1:c.1608T= | NP_001361619.1:p.Asp536= | |
| NM_001374691.1:c.1476T= | NP_001361620.1:p.Asp492= | |
| NM_001374692.1:c.1476T= | NP_001361621.1:p.Asp492= | |
| NM_001374693.1:c.1476T= | NP_001361622.1:p.Asp492= | |
| NM_001374695.1:c.1437T= | NP_001361624.1:p.Asp479= | |
| NM_007171.4:c.1893T= | NP_009102.4:p.Asp631= | |
| NR_148391.2:n.1861T= | ||
| NR_148392.2:n.2079T= | ||
| NR_148393.2:n.2000T= | ||
| NR_148394.2:n.1754T= | ||
| NR_148395.2:n.2152T= | ||
| NR_148396.2:n.1786T= | ||
| NR_148397.2:n.1911T= | ||
| NR_148398.2:n.1866T= | ||
| NR_148399.2:n.2392T= | ||
| NR_148400.2:n.1991T= |