Canonical Allele Identifier: CA2091561631

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942520T= , CM000675.2:g.51942520T=	GRCh38
NC_000013.10:g.52516656T= , CM000675.1:g.52516656T=	GRCh37
NC_000013.9:g.51414657T=	NCBI36
NG_008806.1:g.73975A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*928A=	ENSP00000489512.2:n.*928A=
ENST00000673864.2:c.*2022A=	ENSP00000501045.2:n.*2022A=
ENST00000674147.2:c.2657A=	ENSP00000500964.2:p.Asp886=
ENST00000242839.10:c.3278A= MANE Select	ENSP00000242839.5:p.Asp1093=
ENST00000344297.9:c.2657A=	ENSP00000342559.5:p.Asp886=
ENST00000400366.6:c.2945A=	ENSP00000383217.3:p.Asp982=
ENST00000448424.7:c.3026A=	ENSP00000416738.3:p.Asp1009=
ENST00000673772.1:c.3044A=	ENSP00000501168.1:p.Asp1015=
ENST00000673867.1:n.3417A=
ENST00000674126.1:n.3641A=
ENST00000674147.1:c.2213A=	ENSP00000500964.1:p.Asp738=
ENST00000242839.8:c.3278A=	ENSP00000242839.4:p.Asp1093=
ENST00000344297.8:c.2657A=	ENSP00000342559.5:p.Asp886=
ENST00000400366.5:c.2945A=	ENSP00000383217.3:p.Asp982=
ENST00000400370.8:c.1988A=	ENSP00000383221.3:p.Asp663=
ENST00000418097.7:c.3083A=	ENSP00000393343.2:p.Asp1028=
ENST00000448424.6:c.3044A=	ENSP00000416738.2:p.Asp1015=
ENST00000634296.1:c.1056A=
ENST00000634308.1:c.*379A=	ENSP00000489234.1:n.*379A=
ENST00000634620.1:n.4022A=
ENST00000634810.1:n.2623A=
ENST00000634844.1:c.3134A=	ENSP00000489398.1:p.Asp1045=
NM_000053.3:c.3278A=	NP_000044.2:p.Asp1093=
NM_001005918.2:c.2657A=	NP_001005918.1:p.Asp886=
NM_001243182.1:c.2945A=	NP_001230111.1:p.Asp982=
XM_005266423.2:c.3182A=	XP_005266480.1:p.Asp1061=
XM_005266424.3:c.3182A=	XP_005266481.1:p.Asp1061=
XM_005266427.2:c.3044A=	XP_005266484.1:p.Asp1015=
XM_005266428.1:c.3026A=	XP_005266485.1:p.Asp1009=
XM_005266430.3:c.3278A=	XP_005266487.1:p.Asp1093=
XM_005266431.2:c.3242A=	XP_005266488.1:p.Asp1081=
XM_005266432.2:c.2792A=	XP_005266489.1:p.Asp931=
XM_006719837.2:c.3182A=	XP_006719900.1:p.Asp1061=
XM_006719838.1:c.1094A=	XP_006719901.1:p.Asp365=
XM_006719839.1:c.911A=	XP_006719902.1:p.Asp304=
XM_011535117.1:c.3182A=	XP_011533419.1:p.Asp1061=
XM_011535118.1:c.3143A=	XP_011533420.1:p.Asp1048=
XM_011535119.1:c.3095A=	XP_011533421.1:p.Asp1032=
XM_011535120.1:c.2864A=	XP_011533422.1:p.Asp955=
XM_011535121.1:c.2765A=	XP_011533423.1:p.Asp922=
XM_011535122.1:c.1946A=	XP_011533424.1:p.Asp649=
XR_941601.1:n.3497A=
XR_941602.1:n.3497A=
XR_941603.1:n.3497A=
XR_941604.1:n.3497A=
NM_001330578.1:c.3044A=	NP_001317507.1:p.Asp1015=
NM_001330579.1:c.3026A=	NP_001317508.1:p.Asp1009=
XM_005266424.4:c.3182A=	XP_005266481.1:p.Asp1061=
XM_005266430.4:c.3278A=	XP_005266487.1:p.Asp1093=
XM_005266431.4:c.3242A=	XP_005266488.1:p.Asp1081=
XM_006719837.3:c.3182A=	XP_006719900.1:p.Asp1061=
XM_011535117.3:c.3182A=	XP_011533419.1:p.Asp1061=
XM_017020627.1:c.3182A=	XP_016876116.1:p.Asp1061=
NM_000053.4:c.3278A= MANE Select	NP_000044.2:p.Asp1093=
NM_001005918.3:c.2657A=	NP_001005918.1:p.Asp886=
NM_001330579.2:c.3026A=	NP_001317508.1:p.Asp1009=
NM_001243182.2:c.2945A=	NP_001230111.1:p.Asp982=
NM_001330578.2:c.3044A=	NP_001317507.1:p.Asp1015=