Canonical Allele Identifier: CA2091566131

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946310C= , CM000675.2:g.51946310C=	GRCh38
NC_000013.10:g.52520446C= , CM000675.1:g.52520446C=	GRCh37
NC_000013.9:g.51418447C=	NCBI36
NG_008806.1:g.70185G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*867G=	ENSP00000489512.2:n.*867G=
ENST00000673864.2:c.*1778G=	ENSP00000501045.2:n.*1778G=
ENST00000674147.2:c.2413G=	ENSP00000500964.2:p.Gly805=
ENST00000242839.10:c.3034G= MANE Select	ENSP00000242839.5:p.Gly1012=
ENST00000344297.9:c.2413G=	ENSP00000342559.5:p.Gly805=
ENST00000400366.6:c.2701G=	ENSP00000383217.3:p.Gly901=
ENST00000448424.7:c.2782G=	ENSP00000416738.3:p.Gly928=
ENST00000673772.1:c.2800G=	ENSP00000501168.1:p.Gly934=
ENST00000673867.1:n.1181G=
ENST00000674126.1:n.3397G=
ENST00000674147.1:c.1969G=	ENSP00000500964.1:p.Gly657=
ENST00000242839.8:c.3034G=	ENSP00000242839.4:p.Gly1012=
ENST00000344297.8:c.2413G=	ENSP00000342559.5:p.Gly805=
ENST00000400366.5:c.2701G=	ENSP00000383217.3:p.Gly901=
ENST00000400370.8:c.1744G=	ENSP00000383221.3:p.Gly582=
ENST00000418097.7:c.2866-2019G=	ENSP00000393343.2:n.2866-2019G=
ENST00000448424.6:c.2800G=	ENSP00000416738.2:p.Gly934=
ENST00000466629.1:n.254G=
ENST00000634296.1:c.995G=
ENST00000634308.1:c.*135G=	ENSP00000489234.1:n.*135G=
ENST00000634620.1:n.3778G=
ENST00000634810.1:n.2379G=
ENST00000634844.1:c.2890G=	ENSP00000489398.1:p.Gly964=
ENST00000635406.1:n.380G=
NM_000053.3:c.3034G=	NP_000044.2:p.Gly1012=
NM_001005918.2:c.2413G=	NP_001005918.1:p.Gly805=
NM_001243182.1:c.2701G=	NP_001230111.1:p.Gly901=
XM_005266423.2:c.2938G=	XP_005266480.1:p.Gly980=
XM_005266424.3:c.2938G=	XP_005266481.1:p.Gly980=
XM_005266427.2:c.2800G=	XP_005266484.1:p.Gly934=
XM_005266428.1:c.2782G=	XP_005266485.1:p.Gly928=
XM_005266430.3:c.3034G=	XP_005266487.1:p.Gly1012=
XM_005266431.2:c.2998G=	XP_005266488.1:p.Gly1000=
XM_005266432.2:c.2548G=	XP_005266489.1:p.Gly850=
XM_006719837.2:c.2938G=	XP_006719900.1:p.Gly980=
XM_006719838.1:c.850G=	XP_006719901.1:p.Gly284=
XM_006719839.1:c.850G=	XP_006719902.1:p.Gly284=
XM_011535117.1:c.2938G=	XP_011533419.1:p.Gly980=
XM_011535118.1:c.2899G=	XP_011533420.1:p.Gly967=
XM_011535119.1:c.3034G=	XP_011533421.1:p.Gly1012=
XM_011535120.1:c.2620G=	XP_011533422.1:p.Gly874=
XM_011535121.1:c.2730+3697G=	XP_011533423.1:n.2730+3697G=
XM_011535122.1:c.1702G=	XP_011533424.1:p.Gly568=
XR_941601.1:n.3253G=
XR_941602.1:n.3253G=
XR_941603.1:n.3253G=
XR_941604.1:n.3253G=
NM_001330578.1:c.2800G=	NP_001317507.1:p.Gly934=
NM_001330579.1:c.2782G=	NP_001317508.1:p.Gly928=
XM_005266424.4:c.2938G=	XP_005266481.1:p.Gly980=
XM_005266430.4:c.3034G=	XP_005266487.1:p.Gly1012=
XM_005266431.4:c.2998G=	XP_005266488.1:p.Gly1000=
XM_006719837.3:c.2938G=	XP_006719900.1:p.Gly980=
XM_011535117.3:c.2938G=	XP_011533419.1:p.Gly980=
XM_017020627.1:c.2938G=	XP_016876116.1:p.Gly980=
NM_000053.4:c.3034G= MANE Select	NP_000044.2:p.Gly1012=
NM_001005918.3:c.2413G=	NP_001005918.1:p.Gly805=
NM_001330579.2:c.2782G=	NP_001317508.1:p.Gly928=
NM_001243182.2:c.2701G=	NP_001230111.1:p.Gly901=
NM_001330578.2:c.2800G=	NP_001317507.1:p.Gly934=