Canonical Allele Identifier: CA2091564215

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944270T= , CM000675.2:g.51944270T=	GRCh38
NC_000013.10:g.52518406T= , CM000675.1:g.52518406T=	GRCh37
NC_000013.9:g.51416407T=	NCBI36
NG_008806.1:g.72225A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1716A=	ENSP00000489512.2:n.*894-1716A=
ENST00000673864.2:c.*1826A=	ENSP00000501045.2:n.*1826A=
ENST00000674147.2:c.2461A=	ENSP00000500964.2:p.Lys821=
ENST00000242839.10:c.3082A= MANE Select	ENSP00000242839.5:p.Lys1028=
ENST00000344297.9:c.2461A=	ENSP00000342559.5:p.Lys821=
ENST00000400366.6:c.2749A=	ENSP00000383217.3:p.Lys917=
ENST00000448424.7:c.2830A=	ENSP00000416738.3:p.Lys944=
ENST00000673772.1:c.2848A=	ENSP00000501168.1:p.Lys950=
ENST00000673867.1:n.3221A=
ENST00000674126.1:n.3445A=
ENST00000674147.1:c.2017A=	ENSP00000500964.1:p.Lys673=
ENST00000242839.8:c.3082A=	ENSP00000242839.4:p.Lys1028=
ENST00000344297.8:c.2461A=	ENSP00000342559.5:p.Lys821=
ENST00000400366.5:c.2749A=	ENSP00000383217.3:p.Lys917=
ENST00000400370.8:c.1792A=	ENSP00000383221.3:p.Lys598=
ENST00000418097.7:c.2887A=	ENSP00000393343.2:p.Lys963=
ENST00000448424.6:c.2848A=	ENSP00000416738.2:p.Lys950=
ENST00000466629.1:n.302A=
ENST00000634296.1:c.1022-1716A=
ENST00000634308.1:c.*183A=	ENSP00000489234.1:n.*183A=
ENST00000634620.1:n.3826A=
ENST00000634810.1:n.2427A=
ENST00000634844.1:c.2938A=	ENSP00000489398.1:p.Lys980=
ENST00000635406.1:n.428A=
NM_000053.3:c.3082A=	NP_000044.2:p.Lys1028=
NM_001005918.2:c.2461A=	NP_001005918.1:p.Lys821=
NM_001243182.1:c.2749A=	NP_001230111.1:p.Lys917=
XM_005266423.2:c.2986A=	XP_005266480.1:p.Lys996=
XM_005266424.3:c.2986A=	XP_005266481.1:p.Lys996=
XM_005266427.2:c.2848A=	XP_005266484.1:p.Lys950=
XM_005266428.1:c.2830A=	XP_005266485.1:p.Lys944=
XM_005266430.3:c.3082A=	XP_005266487.1:p.Lys1028=
XM_005266431.2:c.3046A=	XP_005266488.1:p.Lys1016=
XM_005266432.2:c.2596A=	XP_005266489.1:p.Lys866=
XM_006719837.2:c.2986A=	XP_006719900.1:p.Lys996=
XM_006719838.1:c.898A=	XP_006719901.1:p.Lys300=
XM_006719839.1:c.877-1716A=	XP_006719902.1:n.877-1716A=
XM_011535117.1:c.2986A=	XP_011533419.1:p.Lys996=
XM_011535118.1:c.2947A=	XP_011533420.1:p.Lys983=
XM_011535119.1:c.3061-1716A=	XP_011533421.1:n.3061-1716A=
XM_011535120.1:c.2668A=	XP_011533422.1:p.Lys890=
XM_011535121.1:c.2731-1716A=	XP_011533423.1:n.2731-1716A=
XM_011535122.1:c.1750A=	XP_011533424.1:p.Lys584=
XR_941601.1:n.3301A=
XR_941602.1:n.3301A=
XR_941603.1:n.3301A=
XR_941604.1:n.3301A=
NM_001330578.1:c.2848A=	NP_001317507.1:p.Lys950=
NM_001330579.1:c.2830A=	NP_001317508.1:p.Lys944=
XM_005266424.4:c.2986A=	XP_005266481.1:p.Lys996=
XM_005266430.4:c.3082A=	XP_005266487.1:p.Lys1028=
XM_005266431.4:c.3046A=	XP_005266488.1:p.Lys1016=
XM_006719837.3:c.2986A=	XP_006719900.1:p.Lys996=
XM_011535117.3:c.2986A=	XP_011533419.1:p.Lys996=
XM_017020627.1:c.2986A=	XP_016876116.1:p.Lys996=
NM_000053.4:c.3082A= MANE Select	NP_000044.2:p.Lys1028=
NM_001005918.3:c.2461A=	NP_001005918.1:p.Lys821=
NM_001330579.2:c.2830A=	NP_001317508.1:p.Lys944=
NM_001243182.2:c.2749A=	NP_001230111.1:p.Lys917=
NM_001330578.2:c.2848A=	NP_001317507.1:p.Lys950=