Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522997T>A , CM000671.2:g.131522997T>A	GRCh38
NC_000009.11:g.134398384T>A , CM000671.1:g.134398384T>A	GRCh37
NC_000009.10:g.133388205T>A	NCBI36
NG_008896.1:g.25096T>A
NG_008896.2:g.25096T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1907T>A	ENSP00000343034.7:p.Val636Glu
ENST00000404875.7:n.2609T>A
ENST00000423007.6:c.2126T>A	ENSP00000404119.2:p.Val709Glu
ENST00000677295.2:c.*2413T>A	ENSP00000504346.2:n.*2413T>A
ENST00000678264.2:c.*2252T>A	ENSP00000503157.2:n.*2252T>A
ENST00000682070.1:n.2379T>A
ENST00000682639.1:c.66T>A
ENST00000682813.1:n.2466T>A
ENST00000683231.1:c.66T>A
ENST00000683392.1:n.4661T>A
ENST00000683712.1:n.2474T>A
ENST00000683900.1:n.3969T>A
ENST00000684062.1:n.2735T>A
ENST00000684399.1:c.66T>A
ENST00000684579.1:n.3915T>A
ENST00000341012.12:c.1907T>A	ENSP00000343034.7:p.Val636Glu
ENST00000372220.5:c.938T>A	ENSP00000361294.5:p.Val313Glu
ENST00000372228.9:c.2135T>A	ENSP00000361302.3:p.Val712Glu
ENST00000402686.8:c.2069T>A MANE Select	ENSP00000385797.4:p.Val690Glu
ENST00000676640.1:c.2069T>A	ENSP00000503281.1:p.Val690Glu
ENST00000676803.1:c.1130T>A	ENSP00000503093.1:p.Val377Glu
ENST00000676835.1:c.*1284T>A	ENSP00000502911.1:n.*1284T>A
ENST00000677029.1:c.1613T>A	ENSP00000502936.1:p.Val538Glu
ENST00000677099.1:c.*1779T>A	ENSP00000504553.1:n.*1779T>A
ENST00000677216.1:c.1718T>A	ENSP00000503772.1:p.Val573Glu
ENST00000677221.1:n.1094T>A
ENST00000677295.1:c.*1291T>A	ENSP00000504346.1:n.*1291T>A
ENST00000677444.1:c.2014T>A
ENST00000677586.1:n.1436T>A
ENST00000677626.1:c.1718T>A	ENSP00000503552.1:p.Val573Glu
ENST00000677853.1:c.*1077T>A	ENSP00000503488.1:n.*1077T>A
ENST00000678264.1:c.*1446T>A	ENSP00000503157.1:n.*1446T>A
ENST00000678303.1:c.1979T>A	ENSP00000503696.1:p.Val660Glu
ENST00000678366.1:c.*2318T>A	ENSP00000504353.1:n.*2318T>A
ENST00000678546.1:c.*2014T>A	ENSP00000503062.1:n.*2014T>A
ENST00000678548.1:c.*2208T>A	ENSP00000503934.1:n.*2208T>A
ENST00000678626.1:n.1905T>A
ENST00000678739.1:c.*2235T>A	ENSP00000503806.1:n.*2235T>A
ENST00000678833.1:c.*1821T>A	ENSP00000503893.1:n.*1821T>A
ENST00000679023.1:c.1907T>A	ENSP00000503718.1:p.Val636Glu
ENST00000679076.1:c.1688T>A
ENST00000679111.1:c.*825T>A	ENSP00000504257.1:n.*825T>A
ENST00000679189.1:c.1718T>A	ENSP00000503356.1:p.Val573Glu
ENST00000341012.11:c.1907T>A	ENSP00000343034.7:p.Val636Glu
ENST00000372220.4:c.932T>A	ENSP00000361294.4:p.Val311Glu
ENST00000372228.7:c.2135T>A	ENSP00000361302.3:p.Val712Glu
ENST00000402686.7:c.2069T>A	ENSP00000385797.3:p.Val690Glu
ENST00000404875.6:c.1718T>A	ENSP00000384531.2:p.Val573Glu
ENST00000423007.5:c.2069T>A	ENSP00000404119.1:p.Val690Glu
ENST00000485278.5:n.2619T>A
NM_001077365.1:c.2069T>A	NP_001070833.1:p.Val690Glu
NM_001077366.1:c.1907T>A	NP_001070834.1:p.Val636Glu
NM_001136113.1:c.2069T>A	NP_001129585.1:p.Val690Glu
NM_001136114.1:c.1718T>A	NP_001129586.1:p.Val573Glu
NM_007171.3:c.2135T>A	NP_009102.3:p.Val712Glu
XM_005272156.1:c.2135T>A	XP_005272213.1:p.Val712Glu
XM_005272158.1:c.1973T>A	XP_005272215.1:p.Val658Glu
XM_005272159.1:c.1784T>A	XP_005272216.1:p.Val595Glu
XM_005272162.1:c.938T>A	XP_005272219.1:p.Val313Glu
XM_006716932.1:c.1784T>A	XP_006716995.1:p.Val595Glu
XM_011518140.1:c.1988T>A	XP_011516442.1:p.Val663Glu
XM_011518141.1:c.1922T>A	XP_011516443.1:p.Val641Glu
XM_011518142.1:c.1826T>A	XP_011516444.1:p.Val609Glu
XM_011518143.1:c.1820T>A	XP_011516445.1:p.Val607Glu
XM_011518145.1:c.1679T>A	XP_011516447.1:p.Val560Glu
XM_011518147.1:c.1007T>A	XP_011516449.1:p.Val336Glu
XR_929703.1:n.2311T>A
NM_001353193.1:c.2135T>A	NP_001340122.1:p.Val712Glu
NM_001353194.1:c.1907T>A	NP_001340123.1:p.Val636Glu
NM_001353195.1:c.1718T>A	NP_001340124.1:p.Val573Glu
NM_001353196.1:c.1979T>A	NP_001340125.1:p.Val660Glu
NM_001353197.1:c.1973T>A	NP_001340126.1:p.Val658Glu
NM_001353198.1:c.1973T>A	NP_001340127.1:p.Val658Glu
NM_001353199.1:c.1784T>A	NP_001340128.1:p.Val595Glu
NM_001353200.1:c.1613T>A	NP_001340129.1:p.Val538Glu
NR_148391.1:n.2119T>A
NR_148392.1:n.2337T>A
NR_148393.1:n.2258T>A
NR_148394.1:n.2012T>A
NR_148395.1:n.2410T>A
NR_148396.1:n.2044T>A
NR_148397.1:n.2169T>A
NR_148398.1:n.2124T>A
NR_148399.1:n.2650T>A
NR_148400.1:n.2249T>A
XM_005272162.3:c.938T>A	XP_005272219.1:p.Val313Glu
XM_006716932.2:c.1784T>A	XP_006716995.1:p.Val595Glu
XM_011518140.2:c.1988T>A	XP_011516442.1:p.Val663Glu
XM_011518141.2:c.1922T>A	XP_011516443.1:p.Val641Glu
XM_011518142.2:c.1826T>A	XP_011516444.1:p.Val609Glu
XM_011518143.2:c.1820T>A	XP_011516445.1:p.Val607Glu
XM_011518145.2:c.1679T>A	XP_011516447.1:p.Val560Glu
XM_017014205.2:c.938T>A	XP_016869694.1:p.Val313Glu
XM_024447380.1:c.938T>A	XP_024303148.1:p.Val313Glu
XM_024447381.1:c.1244T>A	XP_024303149.1:p.Val415Glu
XM_024447382.1:c.938T>A	XP_024303150.1:p.Val313Glu
XR_001746160.2:n.2239T>A
XR_001746162.2:n.2444T>A
XR_001746164.1:n.2161T>A
XR_001746166.2:n.2456T>A
NM_001077365.2:c.2069T>A MANE Select	NP_001070833.1:p.Val690Glu
NM_001077366.2:c.1907T>A	NP_001070834.1:p.Val636Glu
NM_001136113.2:c.2069T>A	NP_001129585.1:p.Val690Glu
NM_001136114.2:c.1718T>A	NP_001129586.1:p.Val573Glu
NM_001353193.2:c.2135T>A	NP_001340122.2:p.Val712Glu
NM_001353194.2:c.1907T>A	NP_001340123.1:p.Val636Glu
NM_001353195.2:c.1718T>A	NP_001340124.1:p.Val573Glu
NM_001353196.2:c.1979T>A	NP_001340125.1:p.Val660Glu
NM_001353197.2:c.1973T>A	NP_001340126.2:p.Val658Glu
NM_001353198.2:c.1973T>A	NP_001340127.2:p.Val658Glu
NM_001353199.2:c.1784T>A	NP_001340128.2:p.Val595Glu
NM_001353200.2:c.1613T>A	NP_001340129.1:p.Val538Glu
NM_001374689.1:c.2057T>A	NP_001361618.1:p.Val686Glu
NM_001374690.1:c.1850T>A	NP_001361619.1:p.Val617Glu
NM_001374691.1:c.1718T>A	NP_001361620.1:p.Val573Glu
NM_001374692.1:c.1718T>A	NP_001361621.1:p.Val573Glu
NM_001374693.1:c.1718T>A	NP_001361622.1:p.Val573Glu
NM_001374695.1:c.1679T>A	NP_001361624.1:p.Val560Glu
NM_007171.4:c.2135T>A	NP_009102.4:p.Val712Glu
NR_148391.2:n.2103T>A
NR_148392.2:n.2321T>A
NR_148393.2:n.2242T>A
NR_148394.2:n.1996T>A
NR_148395.2:n.2394T>A
NR_148396.2:n.2028T>A
NR_148397.2:n.2153T>A
NR_148398.2:n.2108T>A
NR_148399.2:n.2634T>A
NR_148400.2:n.2233T>A

Linked Data

Genomic Alleles

Transcript Alleles