Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522151T>A , CM000671.2:g.131522151T>A	GRCh38
NC_000009.11:g.134397538T>A , CM000671.1:g.134397538T>A	GRCh37
NC_000009.10:g.133387359T>A	NCBI36
NG_008896.1:g.24250T>A
NG_008896.2:g.24250T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1768T>A	ENSP00000343034.7:p.Tyr590Asn
ENST00000404875.7:n.2470T>A
ENST00000423007.6:c.1987T>A	ENSP00000404119.2:p.Tyr663Asn
ENST00000677295.2:c.*2274T>A	ENSP00000504346.2:n.*2274T>A
ENST00000678264.2:c.*2113T>A	ENSP00000503157.2:n.*2113T>A
ENST00000682070.1:n.2291-51T>A
ENST00000682813.1:n.2334T>A
ENST00000683392.1:n.4573-51T>A
ENST00000683712.1:n.2335T>A
ENST00000683900.1:n.3830T>A
ENST00000684062.1:n.2596T>A
ENST00000684579.1:n.3776T>A
ENST00000684679.1:n.1157T>A
ENST00000341012.12:c.1768T>A	ENSP00000343034.7:p.Tyr590Asn
ENST00000372220.5:c.799T>A	ENSP00000361294.5:p.Tyr267Asn
ENST00000372228.9:c.1996T>A	ENSP00000361302.3:p.Tyr666Asn
ENST00000402686.8:c.1930T>A MANE Select	ENSP00000385797.4:p.Tyr644Asn
ENST00000676640.1:c.1930T>A	ENSP00000503281.1:p.Tyr644Asn
ENST00000676803.1:c.991T>A	ENSP00000503093.1:p.Tyr331Asn
ENST00000676835.1:c.*1145T>A	ENSP00000502911.1:n.*1145T>A
ENST00000677029.1:c.1474T>A	ENSP00000502936.1:p.Tyr492Asn
ENST00000677099.1:c.*1640T>A	ENSP00000504553.1:n.*1640T>A
ENST00000677216.1:c.1579T>A	ENSP00000503772.1:p.Tyr527Asn
ENST00000677221.1:n.955T>A
ENST00000677295.1:c.*1203-51T>A	ENSP00000504346.1:n.*1203-51T>A
ENST00000677444.1:c.1875T>A
ENST00000677586.1:n.1297T>A
ENST00000677626.1:c.1579T>A	ENSP00000503552.1:p.Tyr527Asn
ENST00000677853.1:c.*938T>A	ENSP00000503488.1:n.*938T>A
ENST00000678202.1:n.1089T>A
ENST00000678264.1:c.*1307T>A	ENSP00000503157.1:n.*1307T>A
ENST00000678303.1:c.1840T>A	ENSP00000503696.1:p.Tyr614Asn
ENST00000678366.1:c.*2179T>A	ENSP00000504353.1:n.*2179T>A
ENST00000678546.1:c.*1875T>A	ENSP00000503062.1:n.*1875T>A
ENST00000678548.1:c.*2069T>A	ENSP00000503934.1:n.*2069T>A
ENST00000678626.1:n.1766T>A
ENST00000678739.1:c.*2147-51T>A	ENSP00000503806.1:n.*2147-51T>A
ENST00000678833.1:c.*1682T>A	ENSP00000503893.1:n.*1682T>A
ENST00000679023.1:c.1768T>A	ENSP00000503718.1:p.Tyr590Asn
ENST00000679076.1:c.1549T>A
ENST00000679111.1:c.*686T>A	ENSP00000504257.1:n.*686T>A
ENST00000679189.1:c.1579T>A	ENSP00000503356.1:p.Tyr527Asn
ENST00000341012.11:c.1768T>A	ENSP00000343034.7:p.Tyr590Asn
ENST00000372220.4:c.793T>A	ENSP00000361294.4:p.Tyr265Asn
ENST00000372228.7:c.1996T>A	ENSP00000361302.3:p.Tyr666Asn
ENST00000402686.7:c.1930T>A	ENSP00000385797.3:p.Tyr644Asn
ENST00000404875.6:c.1579T>A	ENSP00000384531.2:p.Tyr527Asn
ENST00000423007.5:c.1930T>A	ENSP00000404119.1:p.Tyr644Asn
ENST00000485278.5:n.2480T>A
ENST00000494883.1:n.473T>A
NM_001077365.1:c.1930T>A	NP_001070833.1:p.Tyr644Asn
NM_001077366.1:c.1768T>A	NP_001070834.1:p.Tyr590Asn
NM_001136113.1:c.1930T>A	NP_001129585.1:p.Tyr644Asn
NM_001136114.1:c.1579T>A	NP_001129586.1:p.Tyr527Asn
NM_007171.3:c.1996T>A	NP_009102.3:p.Tyr666Asn
XM_005272156.1:c.1996T>A	XP_005272213.1:p.Tyr666Asn
XM_005272158.1:c.1834T>A	XP_005272215.1:p.Tyr612Asn
XM_005272159.1:c.1645T>A	XP_005272216.1:p.Tyr549Asn
XM_005272162.1:c.799T>A	XP_005272219.1:p.Tyr267Asn
XM_006716932.1:c.1645T>A	XP_006716995.1:p.Tyr549Asn
XM_011518140.1:c.1849T>A	XP_011516442.1:p.Tyr617Asn
XM_011518141.1:c.1783T>A	XP_011516443.1:p.Tyr595Asn
XM_011518142.1:c.1687T>A	XP_011516444.1:p.Tyr563Asn
XM_011518143.1:c.1681T>A	XP_011516445.1:p.Tyr561Asn
XM_011518145.1:c.1540T>A	XP_011516447.1:p.Tyr514Asn
XM_011518147.1:c.868T>A	XP_011516449.1:p.Tyr290Asn
XR_929703.1:n.2172T>A
NM_001353193.1:c.1996T>A	NP_001340122.1:p.Tyr666Asn
NM_001353194.1:c.1768T>A	NP_001340123.1:p.Tyr590Asn
NM_001353195.1:c.1579T>A	NP_001340124.1:p.Tyr527Asn
NM_001353196.1:c.1840T>A	NP_001340125.1:p.Tyr614Asn
NM_001353197.1:c.1834T>A	NP_001340126.1:p.Tyr612Asn
NM_001353198.1:c.1834T>A	NP_001340127.1:p.Tyr612Asn
NM_001353199.1:c.1645T>A	NP_001340128.1:p.Tyr549Asn
NM_001353200.1:c.1474T>A	NP_001340129.1:p.Tyr492Asn
NR_148391.1:n.1980T>A
NR_148392.1:n.2198T>A
NR_148393.1:n.2119T>A
NR_148394.1:n.1873T>A
NR_148395.1:n.2271T>A
NR_148396.1:n.1905T>A
NR_148397.1:n.2030T>A
NR_148398.1:n.1985T>A
NR_148399.1:n.2511T>A
NR_148400.1:n.2110T>A
XM_005272162.3:c.799T>A	XP_005272219.1:p.Tyr267Asn
XM_006716932.2:c.1645T>A	XP_006716995.1:p.Tyr549Asn
XM_011518140.2:c.1849T>A	XP_011516442.1:p.Tyr617Asn
XM_011518141.2:c.1783T>A	XP_011516443.1:p.Tyr595Asn
XM_011518142.2:c.1687T>A	XP_011516444.1:p.Tyr563Asn
XM_011518143.2:c.1681T>A	XP_011516445.1:p.Tyr561Asn
XM_011518145.2:c.1540T>A	XP_011516447.1:p.Tyr514Asn
XM_017014205.2:c.799T>A	XP_016869694.1:p.Tyr267Asn
XM_024447380.1:c.799T>A	XP_024303148.1:p.Tyr267Asn
XM_024447381.1:c.1105T>A	XP_024303149.1:p.Tyr369Asn
XM_024447382.1:c.799T>A	XP_024303150.1:p.Tyr267Asn
XR_001746160.2:n.2100T>A
XR_001746162.2:n.2305T>A
XR_001746164.1:n.2022T>A
XR_001746166.2:n.2317T>A
NM_001077365.2:c.1930T>A MANE Select	NP_001070833.1:p.Tyr644Asn
NM_001077366.2:c.1768T>A	NP_001070834.1:p.Tyr590Asn
NM_001136113.2:c.1930T>A	NP_001129585.1:p.Tyr644Asn
NM_001136114.2:c.1579T>A	NP_001129586.1:p.Tyr527Asn
NM_001353193.2:c.1996T>A	NP_001340122.2:p.Tyr666Asn
NM_001353194.2:c.1768T>A	NP_001340123.1:p.Tyr590Asn
NM_001353195.2:c.1579T>A	NP_001340124.1:p.Tyr527Asn
NM_001353196.2:c.1840T>A	NP_001340125.1:p.Tyr614Asn
NM_001353197.2:c.1834T>A	NP_001340126.2:p.Tyr612Asn
NM_001353198.2:c.1834T>A	NP_001340127.2:p.Tyr612Asn
NM_001353199.2:c.1645T>A	NP_001340128.2:p.Tyr549Asn
NM_001353200.2:c.1474T>A	NP_001340129.1:p.Tyr492Asn
NM_001374689.1:c.1918T>A	NP_001361618.1:p.Tyr640Asn
NM_001374690.1:c.1711T>A	NP_001361619.1:p.Tyr571Asn
NM_001374691.1:c.1579T>A	NP_001361620.1:p.Tyr527Asn
NM_001374692.1:c.1579T>A	NP_001361621.1:p.Tyr527Asn
NM_001374693.1:c.1579T>A	NP_001361622.1:p.Tyr527Asn
NM_001374695.1:c.1540T>A	NP_001361624.1:p.Tyr514Asn
NM_007171.4:c.1996T>A	NP_009102.4:p.Tyr666Asn
NR_148391.2:n.1964T>A
NR_148392.2:n.2182T>A
NR_148393.2:n.2103T>A
NR_148394.2:n.1857T>A
NR_148395.2:n.2255T>A
NR_148396.2:n.1889T>A
NR_148397.2:n.2014T>A
NR_148398.2:n.1969T>A
NR_148399.2:n.2495T>A
NR_148400.2:n.2094T>A

Linked Data

Genomic Alleles

Transcript Alleles