Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521460G>A , CM000671.2:g.131521460G>A	GRCh38
NC_000009.11:g.134396847G>A , CM000671.1:g.134396847G>A	GRCh37
NC_000009.10:g.133386668G>A	NCBI36
NG_008896.1:g.23559G>A
NG_008896.2:g.23559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1651G>A	ENSP00000343034.7:p.Asp551Asn
ENST00000404875.7:n.2353G>A
ENST00000423007.6:c.1870G>A	ENSP00000404119.2:p.Asp624Asn
ENST00000677295.2:c.*2157G>A	ENSP00000504346.2:n.*2157G>A
ENST00000678264.2:c.*1996G>A	ENSP00000503157.2:n.*1996G>A
ENST00000682070.1:n.2278G>A
ENST00000682813.1:n.2217G>A
ENST00000683392.1:n.4560G>A
ENST00000683712.1:n.2218G>A
ENST00000683900.1:n.3713G>A
ENST00000684062.1:n.2479G>A
ENST00000684579.1:n.3659G>A
ENST00000684679.1:n.1040G>A
ENST00000341012.12:c.1651G>A	ENSP00000343034.7:p.Asp551Asn
ENST00000372220.5:c.682G>A	ENSP00000361294.5:p.Asp228Asn
ENST00000372228.9:c.1879G>A	ENSP00000361302.3:p.Asp627Asn
ENST00000402686.8:c.1813G>A MANE Select	ENSP00000385797.4:p.Asp605Asn
ENST00000676640.1:c.1813G>A	ENSP00000503281.1:p.Asp605Asn
ENST00000676803.1:c.874G>A	ENSP00000503093.1:p.Asp292Asn
ENST00000676835.1:c.*1028G>A	ENSP00000502911.1:n.*1028G>A
ENST00000677029.1:c.1357G>A	ENSP00000502936.1:p.Asp453Asn
ENST00000677099.1:c.*1523G>A	ENSP00000504553.1:n.*1523G>A
ENST00000677216.1:c.1462G>A	ENSP00000503772.1:p.Asp488Asn
ENST00000677221.1:n.838G>A
ENST00000677295.1:c.*1190G>A	ENSP00000504346.1:n.*1190G>A
ENST00000677444.1:c.1758G>A
ENST00000677586.1:n.1180G>A
ENST00000677626.1:c.1462G>A	ENSP00000503552.1:p.Asp488Asn
ENST00000677853.1:c.*821G>A	ENSP00000503488.1:n.*821G>A
ENST00000678202.1:n.972G>A
ENST00000678264.1:c.*1190G>A	ENSP00000503157.1:n.*1190G>A
ENST00000678303.1:c.1723G>A	ENSP00000503696.1:p.Asp575Asn
ENST00000678366.1:c.*2062G>A	ENSP00000504353.1:n.*2062G>A
ENST00000678546.1:c.*1758G>A	ENSP00000503062.1:n.*1758G>A
ENST00000678548.1:c.*1885G>A	ENSP00000503934.1:n.*1885G>A
ENST00000678626.1:n.1649G>A
ENST00000678739.1:c.*2134G>A	ENSP00000503806.1:n.*2134G>A
ENST00000678833.1:c.*1565G>A	ENSP00000503893.1:n.*1565G>A
ENST00000679023.1:c.1651G>A	ENSP00000503718.1:p.Asp551Asn
ENST00000679076.1:c.1432G>A
ENST00000679111.1:c.*569G>A	ENSP00000504257.1:n.*569G>A
ENST00000679189.1:c.1462G>A	ENSP00000503356.1:p.Asp488Asn
ENST00000341012.11:c.1651G>A	ENSP00000343034.7:p.Asp551Asn
ENST00000372220.4:c.676G>A	ENSP00000361294.4:p.Asp226Asn
ENST00000372228.7:c.1879G>A	ENSP00000361302.3:p.Asp627Asn
ENST00000402686.7:c.1813G>A	ENSP00000385797.3:p.Asp605Asn
ENST00000404875.6:c.1462G>A	ENSP00000384531.2:p.Asp488Asn
ENST00000423007.5:c.1813G>A	ENSP00000404119.1:p.Asp605Asn
ENST00000485278.5:n.2363G>A
ENST00000494883.1:n.356G>A
NM_001077365.1:c.1813G>A	NP_001070833.1:p.Asp605Asn
NM_001077366.1:c.1651G>A	NP_001070834.1:p.Asp551Asn
NM_001136113.1:c.1813G>A	NP_001129585.1:p.Asp605Asn
NM_001136114.1:c.1462G>A	NP_001129586.1:p.Asp488Asn
NM_007171.3:c.1879G>A	NP_009102.3:p.Asp627Asn
XM_005272156.1:c.1879G>A	XP_005272213.1:p.Asp627Asn
XM_005272158.1:c.1717G>A	XP_005272215.1:p.Asp573Asn
XM_005272159.1:c.1528G>A	XP_005272216.1:p.Asp510Asn
XM_005272162.1:c.682G>A	XP_005272219.1:p.Asp228Asn
XM_006716932.1:c.1528G>A	XP_006716995.1:p.Asp510Asn
XM_011518140.1:c.1732G>A	XP_011516442.1:p.Asp578Asn
XM_011518141.1:c.1666G>A	XP_011516443.1:p.Asp556Asn
XM_011518142.1:c.1570G>A	XP_011516444.1:p.Asp524Asn
XM_011518143.1:c.1564G>A	XP_011516445.1:p.Asp522Asn
XM_011518145.1:c.1423G>A	XP_011516447.1:p.Asp475Asn
XM_011518147.1:c.751G>A	XP_011516449.1:p.Asp251Asn
XR_929703.1:n.2055G>A
NM_001353193.1:c.1879G>A	NP_001340122.1:p.Asp627Asn
NM_001353194.1:c.1651G>A	NP_001340123.1:p.Asp551Asn
NM_001353195.1:c.1462G>A	NP_001340124.1:p.Asp488Asn
NM_001353196.1:c.1723G>A	NP_001340125.1:p.Asp575Asn
NM_001353197.1:c.1717G>A	NP_001340126.1:p.Asp573Asn
NM_001353198.1:c.1717G>A	NP_001340127.1:p.Asp573Asn
NM_001353199.1:c.1528G>A	NP_001340128.1:p.Asp510Asn
NM_001353200.1:c.1357G>A	NP_001340129.1:p.Asp453Asn
NR_148391.1:n.1863G>A
NR_148392.1:n.2081G>A
NR_148393.1:n.2002G>A
NR_148394.1:n.1756G>A
NR_148395.1:n.2154G>A
NR_148396.1:n.1788G>A
NR_148397.1:n.1913G>A
NR_148398.1:n.1868G>A
NR_148399.1:n.2394G>A
NR_148400.1:n.1993G>A
XM_005272162.3:c.682G>A	XP_005272219.1:p.Asp228Asn
XM_006716932.2:c.1528G>A	XP_006716995.1:p.Asp510Asn
XM_011518140.2:c.1732G>A	XP_011516442.1:p.Asp578Asn
XM_011518141.2:c.1666G>A	XP_011516443.1:p.Asp556Asn
XM_011518142.2:c.1570G>A	XP_011516444.1:p.Asp524Asn
XM_011518143.2:c.1564G>A	XP_011516445.1:p.Asp522Asn
XM_011518145.2:c.1423G>A	XP_011516447.1:p.Asp475Asn
XM_017014205.2:c.682G>A	XP_016869694.1:p.Asp228Asn
XM_024447380.1:c.682G>A	XP_024303148.1:p.Asp228Asn
XM_024447381.1:c.988G>A	XP_024303149.1:p.Asp330Asn
XM_024447382.1:c.682G>A	XP_024303150.1:p.Asp228Asn
XR_001746160.2:n.1983G>A
XR_001746162.2:n.2188G>A
XR_001746164.1:n.1905G>A
XR_001746166.2:n.2200G>A
NM_001077365.2:c.1813G>A MANE Select	NP_001070833.1:p.Asp605Asn
NM_001077366.2:c.1651G>A	NP_001070834.1:p.Asp551Asn
NM_001136113.2:c.1813G>A	NP_001129585.1:p.Asp605Asn
NM_001136114.2:c.1462G>A	NP_001129586.1:p.Asp488Asn
NM_001353193.2:c.1879G>A	NP_001340122.2:p.Asp627Asn
NM_001353194.2:c.1651G>A	NP_001340123.1:p.Asp551Asn
NM_001353195.2:c.1462G>A	NP_001340124.1:p.Asp488Asn
NM_001353196.2:c.1723G>A	NP_001340125.1:p.Asp575Asn
NM_001353197.2:c.1717G>A	NP_001340126.2:p.Asp573Asn
NM_001353198.2:c.1717G>A	NP_001340127.2:p.Asp573Asn
NM_001353199.2:c.1528G>A	NP_001340128.2:p.Asp510Asn
NM_001353200.2:c.1357G>A	NP_001340129.1:p.Asp453Asn
NM_001374689.1:c.1801G>A	NP_001361618.1:p.Asp601Asn
NM_001374690.1:c.1594G>A	NP_001361619.1:p.Asp532Asn
NM_001374691.1:c.1462G>A	NP_001361620.1:p.Asp488Asn
NM_001374692.1:c.1462G>A	NP_001361621.1:p.Asp488Asn
NM_001374693.1:c.1462G>A	NP_001361622.1:p.Asp488Asn
NM_001374695.1:c.1423G>A	NP_001361624.1:p.Asp475Asn
NM_007171.4:c.1879G>A	NP_009102.4:p.Asp627Asn
NR_148391.2:n.1847G>A
NR_148392.2:n.2065G>A
NR_148393.2:n.1986G>A
NR_148394.2:n.1740G>A
NR_148395.2:n.2138G>A
NR_148396.2:n.1772G>A
NR_148397.2:n.1897G>A
NR_148398.2:n.1852G>A
NR_148399.2:n.2378G>A
NR_148400.2:n.1977G>A

Linked Data

Genomic Alleles

Transcript Alleles