Canonical Allele Identifier: CA2091566120

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946291G= , CM000675.2:g.51946291G=	GRCh38
NC_000013.10:g.52520427G= , CM000675.1:g.52520427G=	GRCh37
NC_000013.9:g.51418428G=	NCBI36
NG_008806.1:g.70204C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*886C=	ENSP00000489512.2:n.*886C=
ENST00000673864.2:c.*1797C=	ENSP00000501045.2:n.*1797C=
ENST00000674147.2:c.2432C=	ENSP00000500964.2:p.Ala811=
ENST00000242839.10:c.3053C= MANE Select	ENSP00000242839.5:p.Ala1018=
ENST00000344297.9:c.2432C=	ENSP00000342559.5:p.Ala811=
ENST00000400366.6:c.2720C=	ENSP00000383217.3:p.Ala907=
ENST00000448424.7:c.2801C=	ENSP00000416738.3:p.Ala934=
ENST00000673772.1:c.2819C=	ENSP00000501168.1:p.Ala940=
ENST00000673867.1:n.1200C=
ENST00000674126.1:n.3416C=
ENST00000674147.1:c.1988C=	ENSP00000500964.1:p.Ala663=
ENST00000242839.8:c.3053C=	ENSP00000242839.4:p.Ala1018=
ENST00000344297.8:c.2432C=	ENSP00000342559.5:p.Ala811=
ENST00000400366.5:c.2720C=	ENSP00000383217.3:p.Ala907=
ENST00000400370.8:c.1763C=	ENSP00000383221.3:p.Ala588=
ENST00000418097.7:c.2866-2000C=	ENSP00000393343.2:n.2866-2000C=
ENST00000448424.6:c.2819C=	ENSP00000416738.2:p.Ala940=
ENST00000466629.1:n.273C=
ENST00000634296.1:c.1014C=
ENST00000634308.1:c.*154C=	ENSP00000489234.1:n.*154C=
ENST00000634620.1:n.3797C=
ENST00000634810.1:n.2398C=
ENST00000634844.1:c.2909C=	ENSP00000489398.1:p.Ala970=
ENST00000635406.1:n.399C=
NM_000053.3:c.3053C=	NP_000044.2:p.Ala1018=
NM_001005918.2:c.2432C=	NP_001005918.1:p.Ala811=
NM_001243182.1:c.2720C=	NP_001230111.1:p.Ala907=
XM_005266423.2:c.2957C=	XP_005266480.1:p.Ala986=
XM_005266424.3:c.2957C=	XP_005266481.1:p.Ala986=
XM_005266427.2:c.2819C=	XP_005266484.1:p.Ala940=
XM_005266428.1:c.2801C=	XP_005266485.1:p.Ala934=
XM_005266430.3:c.3053C=	XP_005266487.1:p.Ala1018=
XM_005266431.2:c.3017C=	XP_005266488.1:p.Ala1006=
XM_005266432.2:c.2567C=	XP_005266489.1:p.Ala856=
XM_006719837.2:c.2957C=	XP_006719900.1:p.Ala986=
XM_006719838.1:c.869C=	XP_006719901.1:p.Ala290=
XM_006719839.1:c.869C=	XP_006719902.1:p.Ala290=
XM_011535117.1:c.2957C=	XP_011533419.1:p.Ala986=
XM_011535118.1:c.2918C=	XP_011533420.1:p.Ala973=
XM_011535119.1:c.3053C=	XP_011533421.1:p.Ala1018=
XM_011535120.1:c.2639C=	XP_011533422.1:p.Ala880=
XM_011535121.1:c.2730+3716C=	XP_011533423.1:n.2730+3716C=
XM_011535122.1:c.1721C=	XP_011533424.1:p.Ala574=
XR_941601.1:n.3272C=
XR_941602.1:n.3272C=
XR_941603.1:n.3272C=
XR_941604.1:n.3272C=
NM_001330578.1:c.2819C=	NP_001317507.1:p.Ala940=
NM_001330579.1:c.2801C=	NP_001317508.1:p.Ala934=
XM_005266424.4:c.2957C=	XP_005266481.1:p.Ala986=
XM_005266430.4:c.3053C=	XP_005266487.1:p.Ala1018=
XM_005266431.4:c.3017C=	XP_005266488.1:p.Ala1006=
XM_006719837.3:c.2957C=	XP_006719900.1:p.Ala986=
XM_011535117.3:c.2957C=	XP_011533419.1:p.Ala986=
XM_017020627.1:c.2957C=	XP_016876116.1:p.Ala986=
NM_000053.4:c.3053C= MANE Select	NP_000044.2:p.Ala1018=
NM_001005918.3:c.2432C=	NP_001005918.1:p.Ala811=
NM_001330579.2:c.2801C=	NP_001317508.1:p.Ala934=
NM_001243182.2:c.2720C=	NP_001230111.1:p.Ala907=
NM_001330578.2:c.2819C=	NP_001317507.1:p.Ala940=