Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522061T>A , CM000671.2:g.131522061T>A	GRCh38
NC_000009.11:g.134397448T>A , CM000671.1:g.134397448T>A	GRCh37
NC_000009.10:g.133387269T>A	NCBI36
NG_008896.1:g.24160T>A
NG_008896.2:g.24160T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1678T>A	ENSP00000343034.7:p.Trp560Arg
ENST00000404875.7:n.2380T>A
ENST00000423007.6:c.1897T>A	ENSP00000404119.2:p.Trp633Arg
ENST00000677295.2:c.*2184T>A	ENSP00000504346.2:n.*2184T>A
ENST00000678264.2:c.*2023T>A	ENSP00000503157.2:n.*2023T>A
ENST00000682070.1:n.2291-141T>A
ENST00000682813.1:n.2244T>A
ENST00000683392.1:n.4573-141T>A
ENST00000683712.1:n.2245T>A
ENST00000683900.1:n.3740T>A
ENST00000684062.1:n.2506T>A
ENST00000684579.1:n.3686T>A
ENST00000684679.1:n.1067T>A
ENST00000341012.12:c.1678T>A	ENSP00000343034.7:p.Trp560Arg
ENST00000372220.5:c.709T>A	ENSP00000361294.5:p.Trp237Arg
ENST00000372228.9:c.1906T>A	ENSP00000361302.3:p.Trp636Arg
ENST00000402686.8:c.1840T>A MANE Select	ENSP00000385797.4:p.Trp614Arg
ENST00000676640.1:c.1840T>A	ENSP00000503281.1:p.Trp614Arg
ENST00000676803.1:c.901T>A	ENSP00000503093.1:p.Trp301Arg
ENST00000676835.1:c.*1055T>A	ENSP00000502911.1:n.*1055T>A
ENST00000677029.1:c.1384T>A	ENSP00000502936.1:p.Trp462Arg
ENST00000677099.1:c.*1550T>A	ENSP00000504553.1:n.*1550T>A
ENST00000677216.1:c.1489T>A	ENSP00000503772.1:p.Trp497Arg
ENST00000677221.1:n.865T>A
ENST00000677295.1:c.*1203-141T>A	ENSP00000504346.1:n.*1203-141T>A
ENST00000677444.1:c.1785T>A
ENST00000677586.1:n.1207T>A
ENST00000677626.1:c.1489T>A	ENSP00000503552.1:p.Trp497Arg
ENST00000677853.1:c.*848T>A	ENSP00000503488.1:n.*848T>A
ENST00000678202.1:n.999T>A
ENST00000678264.1:c.*1217T>A	ENSP00000503157.1:n.*1217T>A
ENST00000678303.1:c.1750T>A	ENSP00000503696.1:p.Trp584Arg
ENST00000678366.1:c.*2089T>A	ENSP00000504353.1:n.*2089T>A
ENST00000678546.1:c.*1785T>A	ENSP00000503062.1:n.*1785T>A
ENST00000678548.1:c.*1979T>A	ENSP00000503934.1:n.*1979T>A
ENST00000678626.1:n.1676T>A
ENST00000678739.1:c.*2147-141T>A	ENSP00000503806.1:n.*2147-141T>A
ENST00000678833.1:c.*1592T>A	ENSP00000503893.1:n.*1592T>A
ENST00000679023.1:c.1678T>A	ENSP00000503718.1:p.Trp560Arg
ENST00000679076.1:c.1459T>A
ENST00000679111.1:c.*596T>A	ENSP00000504257.1:n.*596T>A
ENST00000679189.1:c.1489T>A	ENSP00000503356.1:p.Trp497Arg
ENST00000341012.11:c.1678T>A	ENSP00000343034.7:p.Trp560Arg
ENST00000372220.4:c.703T>A	ENSP00000361294.4:p.Trp235Arg
ENST00000372228.7:c.1906T>A	ENSP00000361302.3:p.Trp636Arg
ENST00000402686.7:c.1840T>A	ENSP00000385797.3:p.Trp614Arg
ENST00000404875.6:c.1489T>A	ENSP00000384531.2:p.Trp497Arg
ENST00000423007.5:c.1840T>A	ENSP00000404119.1:p.Trp614Arg
ENST00000485278.5:n.2390T>A
ENST00000494883.1:n.383T>A
NM_001077365.1:c.1840T>A	NP_001070833.1:p.Trp614Arg
NM_001077366.1:c.1678T>A	NP_001070834.1:p.Trp560Arg
NM_001136113.1:c.1840T>A	NP_001129585.1:p.Trp614Arg
NM_001136114.1:c.1489T>A	NP_001129586.1:p.Trp497Arg
NM_007171.3:c.1906T>A	NP_009102.3:p.Trp636Arg
XM_005272156.1:c.1906T>A	XP_005272213.1:p.Trp636Arg
XM_005272158.1:c.1744T>A	XP_005272215.1:p.Trp582Arg
XM_005272159.1:c.1555T>A	XP_005272216.1:p.Trp519Arg
XM_005272162.1:c.709T>A	XP_005272219.1:p.Trp237Arg
XM_006716932.1:c.1555T>A	XP_006716995.1:p.Trp519Arg
XM_011518140.1:c.1759T>A	XP_011516442.1:p.Trp587Arg
XM_011518141.1:c.1693T>A	XP_011516443.1:p.Trp565Arg
XM_011518142.1:c.1597T>A	XP_011516444.1:p.Trp533Arg
XM_011518143.1:c.1591T>A	XP_011516445.1:p.Trp531Arg
XM_011518145.1:c.1450T>A	XP_011516447.1:p.Trp484Arg
XM_011518147.1:c.778T>A	XP_011516449.1:p.Trp260Arg
XR_929703.1:n.2082T>A
NM_001353193.1:c.1906T>A	NP_001340122.1:p.Trp636Arg
NM_001353194.1:c.1678T>A	NP_001340123.1:p.Trp560Arg
NM_001353195.1:c.1489T>A	NP_001340124.1:p.Trp497Arg
NM_001353196.1:c.1750T>A	NP_001340125.1:p.Trp584Arg
NM_001353197.1:c.1744T>A	NP_001340126.1:p.Trp582Arg
NM_001353198.1:c.1744T>A	NP_001340127.1:p.Trp582Arg
NM_001353199.1:c.1555T>A	NP_001340128.1:p.Trp519Arg
NM_001353200.1:c.1384T>A	NP_001340129.1:p.Trp462Arg
NR_148391.1:n.1890T>A
NR_148392.1:n.2108T>A
NR_148393.1:n.2029T>A
NR_148394.1:n.1783T>A
NR_148395.1:n.2181T>A
NR_148396.1:n.1815T>A
NR_148397.1:n.1940T>A
NR_148398.1:n.1895T>A
NR_148399.1:n.2421T>A
NR_148400.1:n.2020T>A
XM_005272162.3:c.709T>A	XP_005272219.1:p.Trp237Arg
XM_006716932.2:c.1555T>A	XP_006716995.1:p.Trp519Arg
XM_011518140.2:c.1759T>A	XP_011516442.1:p.Trp587Arg
XM_011518141.2:c.1693T>A	XP_011516443.1:p.Trp565Arg
XM_011518142.2:c.1597T>A	XP_011516444.1:p.Trp533Arg
XM_011518143.2:c.1591T>A	XP_011516445.1:p.Trp531Arg
XM_011518145.2:c.1450T>A	XP_011516447.1:p.Trp484Arg
XM_017014205.2:c.709T>A	XP_016869694.1:p.Trp237Arg
XM_024447380.1:c.709T>A	XP_024303148.1:p.Trp237Arg
XM_024447381.1:c.1015T>A	XP_024303149.1:p.Trp339Arg
XM_024447382.1:c.709T>A	XP_024303150.1:p.Trp237Arg
XR_001746160.2:n.2010T>A
XR_001746162.2:n.2215T>A
XR_001746164.1:n.1932T>A
XR_001746166.2:n.2227T>A
NM_001077365.2:c.1840T>A MANE Select	NP_001070833.1:p.Trp614Arg
NM_001077366.2:c.1678T>A	NP_001070834.1:p.Trp560Arg
NM_001136113.2:c.1840T>A	NP_001129585.1:p.Trp614Arg
NM_001136114.2:c.1489T>A	NP_001129586.1:p.Trp497Arg
NM_001353193.2:c.1906T>A	NP_001340122.2:p.Trp636Arg
NM_001353194.2:c.1678T>A	NP_001340123.1:p.Trp560Arg
NM_001353195.2:c.1489T>A	NP_001340124.1:p.Trp497Arg
NM_001353196.2:c.1750T>A	NP_001340125.1:p.Trp584Arg
NM_001353197.2:c.1744T>A	NP_001340126.2:p.Trp582Arg
NM_001353198.2:c.1744T>A	NP_001340127.2:p.Trp582Arg
NM_001353199.2:c.1555T>A	NP_001340128.2:p.Trp519Arg
NM_001353200.2:c.1384T>A	NP_001340129.1:p.Trp462Arg
NM_001374689.1:c.1828T>A	NP_001361618.1:p.Trp610Arg
NM_001374690.1:c.1621T>A	NP_001361619.1:p.Trp541Arg
NM_001374691.1:c.1489T>A	NP_001361620.1:p.Trp497Arg
NM_001374692.1:c.1489T>A	NP_001361621.1:p.Trp497Arg
NM_001374693.1:c.1489T>A	NP_001361622.1:p.Trp497Arg
NM_001374695.1:c.1450T>A	NP_001361624.1:p.Trp484Arg
NM_007171.4:c.1906T>A	NP_009102.4:p.Trp636Arg
NR_148391.2:n.1874T>A
NR_148392.2:n.2092T>A
NR_148393.2:n.2013T>A
NR_148394.2:n.1767T>A
NR_148395.2:n.2165T>A
NR_148396.2:n.1799T>A
NR_148397.2:n.1924T>A
NR_148398.2:n.1879T>A
NR_148399.2:n.2405T>A
NR_148400.2:n.2004T>A

Linked Data

Genomic Alleles

Transcript Alleles