Canonical Allele Identifier: CA2091559453

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941140C= , CM000675.2:g.51941140C=	GRCh38
NC_000013.10:g.52515276C= , CM000675.1:g.52515276C=	GRCh37
NC_000013.9:g.51413277C=	NCBI36
NG_008806.1:g.75355G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1147G=	ENSP00000489512.2:n.*1147G=
ENST00000673864.2:c.*2241G=	ENSP00000501045.2:n.*2241G=
ENST00000674147.2:c.2876G=	ENSP00000500964.2:p.Ser959=
ENST00000242839.10:c.3497G= MANE Select	ENSP00000242839.5:p.Ser1166=
ENST00000344297.9:c.2876G=	ENSP00000342559.5:p.Ser959=
ENST00000400366.6:c.3164G=	ENSP00000383217.3:p.Ser1055=
ENST00000448424.7:c.3245G=	ENSP00000416738.3:p.Ser1082=
ENST00000673772.1:c.3263G=	ENSP00000501168.1:p.Ser1088=
ENST00000673867.1:n.3636G=
ENST00000674126.1:n.3860G=
ENST00000674147.1:c.2432G=	ENSP00000500964.1:p.Ser811=
ENST00000242839.8:c.3497G=	ENSP00000242839.4:p.Ser1166=
ENST00000344297.8:c.2876G=	ENSP00000342559.5:p.Ser959=
ENST00000400366.5:c.3164G=	ENSP00000383217.3:p.Ser1055=
ENST00000400370.8:c.2207G=	ENSP00000383221.3:p.Ser736=
ENST00000418097.7:c.3302G=	ENSP00000393343.2:p.Ser1101=
ENST00000448424.6:c.3263G=	ENSP00000416738.2:p.Ser1088=
ENST00000634296.1:c.1275G=
ENST00000634308.1:c.*598G=	ENSP00000489234.1:n.*598G=
ENST00000634620.1:n.4241G=
ENST00000634810.1:n.2842G=
ENST00000634844.1:c.3353G=	ENSP00000489398.1:p.Ser1118=
NM_000053.3:c.3497G=	NP_000044.2:p.Ser1166=
NM_001005918.2:c.2876G=	NP_001005918.1:p.Ser959=
NM_001243182.1:c.3164G=	NP_001230111.1:p.Ser1055=
XM_005266423.2:c.3401G=	XP_005266480.1:p.Ser1134=
XM_005266424.3:c.3401G=	XP_005266481.1:p.Ser1134=
XM_005266427.2:c.3263G=	XP_005266484.1:p.Ser1088=
XM_005266428.1:c.3245G=	XP_005266485.1:p.Ser1082=
XM_005266430.3:c.3497G=	XP_005266487.1:p.Ser1166=
XM_005266431.2:c.3461G=	XP_005266488.1:p.Ser1154=
XM_005266432.2:c.3011G=	XP_005266489.1:p.Ser1004=
XM_006719837.2:c.3401G=	XP_006719900.1:p.Ser1134=
XM_006719838.1:c.1313G=	XP_006719901.1:p.Ser438=
XM_006719839.1:c.1130G=	XP_006719902.1:p.Ser377=
XM_011535117.1:c.3401G=	XP_011533419.1:p.Ser1134=
XM_011535118.1:c.3362G=	XP_011533420.1:p.Ser1121=
XM_011535119.1:c.3314G=	XP_011533421.1:p.Ser1105=
XM_011535120.1:c.3083G=	XP_011533422.1:p.Ser1028=
XM_011535121.1:c.2984G=	XP_011533423.1:p.Ser995=
XM_011535122.1:c.2165G=	XP_011533424.1:p.Ser722=
XR_941601.1:n.3716G=
XR_941602.1:n.3716G=
XR_941603.1:n.3716G=
XR_941604.1:n.3716G=
NM_001330578.1:c.3263G=	NP_001317507.1:p.Ser1088=
NM_001330579.1:c.3245G=	NP_001317508.1:p.Ser1082=
XM_005266424.4:c.3401G=	XP_005266481.1:p.Ser1134=
XM_005266430.4:c.3497G=	XP_005266487.1:p.Ser1166=
XM_005266431.4:c.3461G=	XP_005266488.1:p.Ser1154=
XM_006719837.3:c.3401G=	XP_006719900.1:p.Ser1134=
XM_011535117.3:c.3401G=	XP_011533419.1:p.Ser1134=
XM_017020627.1:c.3401G=	XP_016876116.1:p.Ser1134=
NM_000053.4:c.3497G= MANE Select	NP_000044.2:p.Ser1166=
NM_001005918.3:c.2876G=	NP_001005918.1:p.Ser959=
NM_001330579.2:c.3245G=	NP_001317508.1:p.Ser1082=
NM_001243182.2:c.3164G=	NP_001230111.1:p.Ser1055=
NM_001330578.2:c.3263G=	NP_001317507.1:p.Ser1088=