Canonical Allele Identifier: CA2091559296

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941084C= , CM000675.2:g.51941084C=	GRCh38
NC_000013.10:g.52515220C= , CM000675.1:g.52515220C=	GRCh37
NC_000013.9:g.51413221C=	NCBI36
NG_008806.1:g.75411G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1203G=	ENSP00000489512.2:n.*1203G=
ENST00000673864.2:c.*2297G=	ENSP00000501045.2:n.*2297G=
ENST00000674147.2:c.2932G=	ENSP00000500964.2:p.Asp978=
ENST00000242839.10:c.3553G= MANE Select	ENSP00000242839.5:p.Asp1185=
ENST00000344297.9:c.2932G=	ENSP00000342559.5:p.Asp978=
ENST00000400366.6:c.3220G=	ENSP00000383217.3:p.Asp1074=
ENST00000448424.7:c.3301G=	ENSP00000416738.3:p.Asp1101=
ENST00000673772.1:c.3319G=	ENSP00000501168.1:p.Asp1107=
ENST00000673867.1:n.3692G=
ENST00000674126.1:n.3916G=
ENST00000674147.1:c.2488G=	ENSP00000500964.1:p.Asp830=
ENST00000242839.8:c.3553G=	ENSP00000242839.4:p.Asp1185=
ENST00000344297.8:c.2932G=	ENSP00000342559.5:p.Asp978=
ENST00000400366.5:c.3220G=	ENSP00000383217.3:p.Asp1074=
ENST00000400370.8:c.2263G=	ENSP00000383221.3:p.Asp755=
ENST00000418097.7:c.3358G=	ENSP00000393343.2:p.Asp1120=
ENST00000448424.6:c.3319G=	ENSP00000416738.2:p.Asp1107=
ENST00000634296.1:c.1331G=
ENST00000634308.1:c.*654G=	ENSP00000489234.1:n.*654G=
ENST00000634620.1:n.4297G=
ENST00000634810.1:n.2898G=
ENST00000634844.1:c.3409G=	ENSP00000489398.1:p.Asp1137=
NM_000053.3:c.3553G=	NP_000044.2:p.Asp1185=
NM_001005918.2:c.2932G=	NP_001005918.1:p.Asp978=
NM_001243182.1:c.3220G=	NP_001230111.1:p.Asp1074=
XM_005266423.2:c.3457G=	XP_005266480.1:p.Asp1153=
XM_005266424.3:c.3457G=	XP_005266481.1:p.Asp1153=
XM_005266427.2:c.3319G=	XP_005266484.1:p.Asp1107=
XM_005266428.1:c.3301G=	XP_005266485.1:p.Asp1101=
XM_005266430.3:c.3553G=	XP_005266487.1:p.Asp1185=
XM_005266431.2:c.3517G=	XP_005266488.1:p.Asp1173=
XM_005266432.2:c.3067G=	XP_005266489.1:p.Asp1023=
XM_006719837.2:c.3457G=	XP_006719900.1:p.Asp1153=
XM_006719838.1:c.1369G=	XP_006719901.1:p.Asp457=
XM_006719839.1:c.1186G=	XP_006719902.1:p.Asp396=
XM_011535117.1:c.3457G=	XP_011533419.1:p.Asp1153=
XM_011535118.1:c.3418G=	XP_011533420.1:p.Asp1140=
XM_011535119.1:c.3370G=	XP_011533421.1:p.Asp1124=
XM_011535120.1:c.3139G=	XP_011533422.1:p.Asp1047=
XM_011535121.1:c.3040G=	XP_011533423.1:p.Asp1014=
XM_011535122.1:c.2221G=	XP_011533424.1:p.Asp741=
XR_941601.1:n.3772G=
XR_941602.1:n.3772G=
XR_941603.1:n.3772G=
XR_941604.1:n.3772G=
NM_001330578.1:c.3319G=	NP_001317507.1:p.Asp1107=
NM_001330579.1:c.3301G=	NP_001317508.1:p.Asp1101=
XM_005266424.4:c.3457G=	XP_005266481.1:p.Asp1153=
XM_005266430.4:c.3553G=	XP_005266487.1:p.Asp1185=
XM_005266431.4:c.3517G=	XP_005266488.1:p.Asp1173=
XM_006719837.3:c.3457G=	XP_006719900.1:p.Asp1153=
XM_011535117.3:c.3457G=	XP_011533419.1:p.Asp1153=
XM_017020627.1:c.3457G=	XP_016876116.1:p.Asp1153=
NM_000053.4:c.3553G= MANE Select	NP_000044.2:p.Asp1185=
NM_001005918.3:c.2932G=	NP_001005918.1:p.Asp978=
NM_001330579.2:c.3301G=	NP_001317508.1:p.Asp1101=
NM_001243182.2:c.3220G=	NP_001230111.1:p.Asp1074=
NM_001330578.2:c.3319G=	NP_001317507.1:p.Asp1107=