Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521429G>A , CM000671.2:g.131521429G>A	GRCh38
NC_000009.11:g.134396816G>A , CM000671.1:g.134396816G>A	GRCh37
NC_000009.10:g.133386637G>A	NCBI36
NG_008896.1:g.23528G>A
NG_008896.2:g.23528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1620G>A	ENSP00000343034.7:p.Trp540Ter
ENST00000404875.7:n.2322G>A
ENST00000423007.6:c.1839G>A	ENSP00000404119.2:p.Trp613Ter
ENST00000677295.2:c.*2126G>A	ENSP00000504346.2:n.*2126G>A
ENST00000678264.2:c.*1965G>A	ENSP00000503157.2:n.*1965G>A
ENST00000682070.1:n.2247G>A
ENST00000682813.1:n.2186G>A
ENST00000683392.1:n.4529G>A
ENST00000683712.1:n.2187G>A
ENST00000683900.1:n.3682G>A
ENST00000684062.1:n.2448G>A
ENST00000684579.1:n.3628G>A
ENST00000684679.1:n.1009G>A
ENST00000341012.12:c.1620G>A	ENSP00000343034.7:p.Trp540Ter
ENST00000372220.5:c.651G>A	ENSP00000361294.5:p.Trp217Ter
ENST00000372228.9:c.1848G>A	ENSP00000361302.3:p.Trp616Ter
ENST00000402686.8:c.1782G>A MANE Select	ENSP00000385797.4:p.Trp594Ter
ENST00000676640.1:c.1782G>A	ENSP00000503281.1:p.Trp594Ter
ENST00000676803.1:c.843G>A	ENSP00000503093.1:p.Trp281Ter
ENST00000676835.1:c.*997G>A	ENSP00000502911.1:n.*997G>A
ENST00000677029.1:c.1326G>A	ENSP00000502936.1:p.Trp442Ter
ENST00000677099.1:c.*1492G>A	ENSP00000504553.1:n.*1492G>A
ENST00000677216.1:c.1431G>A	ENSP00000503772.1:p.Trp477Ter
ENST00000677221.1:n.807G>A
ENST00000677295.1:c.*1159G>A	ENSP00000504346.1:n.*1159G>A
ENST00000677444.1:c.1727G>A
ENST00000677586.1:n.1149G>A
ENST00000677626.1:c.1431G>A	ENSP00000503552.1:p.Trp477Ter
ENST00000677853.1:c.*790G>A	ENSP00000503488.1:n.*790G>A
ENST00000678202.1:n.941G>A
ENST00000678264.1:c.*1159G>A	ENSP00000503157.1:n.*1159G>A
ENST00000678303.1:c.1692G>A	ENSP00000503696.1:p.Trp564Ter
ENST00000678366.1:c.*2031G>A	ENSP00000504353.1:n.*2031G>A
ENST00000678546.1:c.*1727G>A	ENSP00000503062.1:n.*1727G>A
ENST00000678548.1:c.*1854G>A	ENSP00000503934.1:n.*1854G>A
ENST00000678626.1:n.1618G>A
ENST00000678739.1:c.*2103G>A	ENSP00000503806.1:n.*2103G>A
ENST00000678833.1:c.*1534G>A	ENSP00000503893.1:n.*1534G>A
ENST00000679023.1:c.1620G>A	ENSP00000503718.1:p.Trp540Ter
ENST00000679076.1:c.1401G>A
ENST00000679111.1:c.*538G>A	ENSP00000504257.1:n.*538G>A
ENST00000679189.1:c.1431G>A	ENSP00000503356.1:p.Trp477Ter
ENST00000341012.11:c.1620G>A	ENSP00000343034.7:p.Trp540Ter
ENST00000372220.4:c.645G>A	ENSP00000361294.4:p.Trp215Ter
ENST00000372228.7:c.1848G>A	ENSP00000361302.3:p.Trp616Ter
ENST00000402686.7:c.1782G>A	ENSP00000385797.3:p.Trp594Ter
ENST00000404875.6:c.1431G>A	ENSP00000384531.2:p.Trp477Ter
ENST00000423007.5:c.1782G>A	ENSP00000404119.1:p.Trp594Ter
ENST00000485278.5:n.2332G>A
ENST00000494883.1:n.325G>A
NM_001077365.1:c.1782G>A	NP_001070833.1:p.Trp594Ter
NM_001077366.1:c.1620G>A	NP_001070834.1:p.Trp540Ter
NM_001136113.1:c.1782G>A	NP_001129585.1:p.Trp594Ter
NM_001136114.1:c.1431G>A	NP_001129586.1:p.Trp477Ter
NM_007171.3:c.1848G>A	NP_009102.3:p.Trp616Ter
XM_005272156.1:c.1848G>A	XP_005272213.1:p.Trp616Ter
XM_005272158.1:c.1686G>A	XP_005272215.1:p.Trp562Ter
XM_005272159.1:c.1497G>A	XP_005272216.1:p.Trp499Ter
XM_005272162.1:c.651G>A	XP_005272219.1:p.Trp217Ter
XM_006716932.1:c.1497G>A	XP_006716995.1:p.Trp499Ter
XM_011518140.1:c.1701G>A	XP_011516442.1:p.Trp567Ter
XM_011518141.1:c.1635G>A	XP_011516443.1:p.Trp545Ter
XM_011518142.1:c.1539G>A	XP_011516444.1:p.Trp513Ter
XM_011518143.1:c.1533G>A	XP_011516445.1:p.Trp511Ter
XM_011518145.1:c.1392G>A	XP_011516447.1:p.Trp464Ter
XM_011518147.1:c.720G>A	XP_011516449.1:p.Trp240Ter
XR_929703.1:n.2024G>A
NM_001353193.1:c.1848G>A	NP_001340122.1:p.Trp616Ter
NM_001353194.1:c.1620G>A	NP_001340123.1:p.Trp540Ter
NM_001353195.1:c.1431G>A	NP_001340124.1:p.Trp477Ter
NM_001353196.1:c.1692G>A	NP_001340125.1:p.Trp564Ter
NM_001353197.1:c.1686G>A	NP_001340126.1:p.Trp562Ter
NM_001353198.1:c.1686G>A	NP_001340127.1:p.Trp562Ter
NM_001353199.1:c.1497G>A	NP_001340128.1:p.Trp499Ter
NM_001353200.1:c.1326G>A	NP_001340129.1:p.Trp442Ter
NR_148391.1:n.1832G>A
NR_148392.1:n.2050G>A
NR_148393.1:n.1971G>A
NR_148394.1:n.1725G>A
NR_148395.1:n.2123G>A
NR_148396.1:n.1757G>A
NR_148397.1:n.1882G>A
NR_148398.1:n.1837G>A
NR_148399.1:n.2363G>A
NR_148400.1:n.1962G>A
XM_005272162.3:c.651G>A	XP_005272219.1:p.Trp217Ter
XM_006716932.2:c.1497G>A	XP_006716995.1:p.Trp499Ter
XM_011518140.2:c.1701G>A	XP_011516442.1:p.Trp567Ter
XM_011518141.2:c.1635G>A	XP_011516443.1:p.Trp545Ter
XM_011518142.2:c.1539G>A	XP_011516444.1:p.Trp513Ter
XM_011518143.2:c.1533G>A	XP_011516445.1:p.Trp511Ter
XM_011518145.2:c.1392G>A	XP_011516447.1:p.Trp464Ter
XM_017014205.2:c.651G>A	XP_016869694.1:p.Trp217Ter
XM_024447380.1:c.651G>A	XP_024303148.1:p.Trp217Ter
XM_024447381.1:c.957G>A	XP_024303149.1:p.Trp319Ter
XM_024447382.1:c.651G>A	XP_024303150.1:p.Trp217Ter
XR_001746160.2:n.1952G>A
XR_001746162.2:n.2157G>A
XR_001746164.1:n.1874G>A
XR_001746166.2:n.2169G>A
NM_001077365.2:c.1782G>A MANE Select	NP_001070833.1:p.Trp594Ter
NM_001077366.2:c.1620G>A	NP_001070834.1:p.Trp540Ter
NM_001136113.2:c.1782G>A	NP_001129585.1:p.Trp594Ter
NM_001136114.2:c.1431G>A	NP_001129586.1:p.Trp477Ter
NM_001353193.2:c.1848G>A	NP_001340122.2:p.Trp616Ter
NM_001353194.2:c.1620G>A	NP_001340123.1:p.Trp540Ter
NM_001353195.2:c.1431G>A	NP_001340124.1:p.Trp477Ter
NM_001353196.2:c.1692G>A	NP_001340125.1:p.Trp564Ter
NM_001353197.2:c.1686G>A	NP_001340126.2:p.Trp562Ter
NM_001353198.2:c.1686G>A	NP_001340127.2:p.Trp562Ter
NM_001353199.2:c.1497G>A	NP_001340128.2:p.Trp499Ter
NM_001353200.2:c.1326G>A	NP_001340129.1:p.Trp442Ter
NM_001374689.1:c.1770G>A	NP_001361618.1:p.Trp590Ter
NM_001374690.1:c.1563G>A	NP_001361619.1:p.Trp521Ter
NM_001374691.1:c.1431G>A	NP_001361620.1:p.Trp477Ter
NM_001374692.1:c.1431G>A	NP_001361621.1:p.Trp477Ter
NM_001374693.1:c.1431G>A	NP_001361622.1:p.Trp477Ter
NM_001374695.1:c.1392G>A	NP_001361624.1:p.Trp464Ter
NM_007171.4:c.1848G>A	NP_009102.4:p.Trp616Ter
NR_148391.2:n.1816G>A
NR_148392.2:n.2034G>A
NR_148393.2:n.1955G>A
NR_148394.2:n.1709G>A
NR_148395.2:n.2107G>A
NR_148396.2:n.1741G>A
NR_148397.2:n.1866G>A
NR_148398.2:n.1821G>A
NR_148399.2:n.2347G>A
NR_148400.2:n.1946G>A

Linked Data

Genomic Alleles

Transcript Alleles