Canonical Allele Identifier: CA2091566208

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946439G= , CM000675.2:g.51946439G=	GRCh38
NC_000013.10:g.52520575G= , CM000675.1:g.52520575G=	GRCh37
NC_000013.9:g.51418576G=	NCBI36
NG_008806.1:g.70056C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*738C=	ENSP00000489512.2:n.*738C=
ENST00000673864.2:c.*1649C=	ENSP00000501045.2:n.*1649C=
ENST00000674147.2:c.2284C=	ENSP00000500964.2:p.Arg762=
ENST00000242839.10:c.2905C= MANE Select	ENSP00000242839.5:p.Arg969=
ENST00000344297.9:c.2284C=	ENSP00000342559.5:p.Arg762=
ENST00000400366.6:c.2572C=	ENSP00000383217.3:p.Arg858=
ENST00000448424.7:c.2653C=	ENSP00000416738.3:p.Arg885=
ENST00000673772.1:c.2671C=	ENSP00000501168.1:p.Arg891=
ENST00000673867.1:n.1052C=
ENST00000674126.1:n.3268C=
ENST00000674147.1:c.1840C=	ENSP00000500964.1:p.Arg614=
ENST00000242839.8:c.2905C=	ENSP00000242839.4:p.Arg969=
ENST00000344297.8:c.2284C=	ENSP00000342559.5:p.Arg762=
ENST00000400366.5:c.2572C=	ENSP00000383217.3:p.Arg858=
ENST00000400370.8:c.1615C=	ENSP00000383221.3:p.Arg539=
ENST00000418097.7:c.2866-2148C=	ENSP00000393343.2:n.2866-2148C=
ENST00000448424.6:c.2671C=	ENSP00000416738.2:p.Arg891=
ENST00000466629.1:n.125C=
ENST00000634296.1:c.866C=
ENST00000634308.1:c.*6C=	ENSP00000489234.1:n.*6C=
ENST00000634620.1:n.3649C=
ENST00000634810.1:n.2250C=
ENST00000634844.1:c.2761C=	ENSP00000489398.1:p.Arg921=
ENST00000635406.1:n.251C=
NM_000053.3:c.2905C=	NP_000044.2:p.Arg969=
NM_001005918.2:c.2284C=	NP_001005918.1:p.Arg762=
NM_001243182.1:c.2572C=	NP_001230111.1:p.Arg858=
XM_005266423.2:c.2809C=	XP_005266480.1:p.Arg937=
XM_005266424.3:c.2809C=	XP_005266481.1:p.Arg937=
XM_005266427.2:c.2671C=	XP_005266484.1:p.Arg891=
XM_005266428.1:c.2653C=	XP_005266485.1:p.Arg885=
XM_005266430.3:c.2905C=	XP_005266487.1:p.Arg969=
XM_005266431.2:c.2869C=	XP_005266488.1:p.Arg957=
XM_005266432.2:c.2419C=	XP_005266489.1:p.Arg807=
XM_006719837.2:c.2809C=	XP_006719900.1:p.Arg937=
XM_006719838.1:c.721C=	XP_006719901.1:p.Arg241=
XM_006719839.1:c.721C=	XP_006719902.1:p.Arg241=
XM_011535117.1:c.2809C=	XP_011533419.1:p.Arg937=
XM_011535118.1:c.2770C=	XP_011533420.1:p.Arg924=
XM_011535119.1:c.2905C=	XP_011533421.1:p.Arg969=
XM_011535120.1:c.2491C=	XP_011533422.1:p.Arg831=
XM_011535121.1:c.2730+3568C=	XP_011533423.1:n.2730+3568C=
XM_011535122.1:c.1573C=	XP_011533424.1:p.Arg525=
XR_941601.1:n.3124C=
XR_941602.1:n.3124C=
XR_941603.1:n.3124C=
XR_941604.1:n.3124C=
NM_001330578.1:c.2671C=	NP_001317507.1:p.Arg891=
NM_001330579.1:c.2653C=	NP_001317508.1:p.Arg885=
XM_005266424.4:c.2809C=	XP_005266481.1:p.Arg937=
XM_005266430.4:c.2905C=	XP_005266487.1:p.Arg969=
XM_005266431.4:c.2869C=	XP_005266488.1:p.Arg957=
XM_006719837.3:c.2809C=	XP_006719900.1:p.Arg937=
XM_011535117.3:c.2809C=	XP_011533419.1:p.Arg937=
XM_017020627.1:c.2809C=	XP_016876116.1:p.Arg937=
NM_000053.4:c.2905C= MANE Select	NP_000044.2:p.Arg969=
NM_001005918.3:c.2284C=	NP_001005918.1:p.Arg762=
NM_001330579.2:c.2653C=	NP_001317508.1:p.Arg885=
NM_001243182.2:c.2572C=	NP_001230111.1:p.Arg858=
NM_001330578.2:c.2671C=	NP_001317507.1:p.Arg891=