Canonical Allele Identifier: CA2091561589

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942506G= , CM000675.2:g.51942506G=	GRCh38
NC_000013.10:g.52516642G= , CM000675.1:g.52516642G=	GRCh37
NC_000013.9:g.51414643G=	NCBI36
NG_008806.1:g.73989C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*942C=	ENSP00000489512.2:n.*942C=
ENST00000673864.2:c.*2036C=	ENSP00000501045.2:n.*2036C=
ENST00000674147.2:c.2671C=	ENSP00000500964.2:p.Pro891=
ENST00000242839.10:c.3292C= MANE Select	ENSP00000242839.5:p.Pro1098=
ENST00000344297.9:c.2671C=	ENSP00000342559.5:p.Pro891=
ENST00000400366.6:c.2959C=	ENSP00000383217.3:p.Pro987=
ENST00000448424.7:c.3040C=	ENSP00000416738.3:p.Pro1014=
ENST00000673772.1:c.3058C=	ENSP00000501168.1:p.Pro1020=
ENST00000673867.1:n.3431C=
ENST00000674126.1:n.3655C=
ENST00000674147.1:c.2227C=	ENSP00000500964.1:p.Pro743=
ENST00000242839.8:c.3292C=	ENSP00000242839.4:p.Pro1098=
ENST00000344297.8:c.2671C=	ENSP00000342559.5:p.Pro891=
ENST00000400366.5:c.2959C=	ENSP00000383217.3:p.Pro987=
ENST00000400370.8:c.2002C=	ENSP00000383221.3:p.Pro668=
ENST00000418097.7:c.3097C=	ENSP00000393343.2:p.Pro1033=
ENST00000448424.6:c.3058C=	ENSP00000416738.2:p.Pro1020=
ENST00000634296.1:c.1070C=
ENST00000634308.1:c.*393C=	ENSP00000489234.1:n.*393C=
ENST00000634620.1:n.4036C=
ENST00000634810.1:n.2637C=
ENST00000634844.1:c.3148C=	ENSP00000489398.1:p.Pro1050=
NM_000053.3:c.3292C=	NP_000044.2:p.Pro1098=
NM_001005918.2:c.2671C=	NP_001005918.1:p.Pro891=
NM_001243182.1:c.2959C=	NP_001230111.1:p.Pro987=
XM_005266423.2:c.3196C=	XP_005266480.1:p.Pro1066=
XM_005266424.3:c.3196C=	XP_005266481.1:p.Pro1066=
XM_005266427.2:c.3058C=	XP_005266484.1:p.Pro1020=
XM_005266428.1:c.3040C=	XP_005266485.1:p.Pro1014=
XM_005266430.3:c.3292C=	XP_005266487.1:p.Pro1098=
XM_005266431.2:c.3256C=	XP_005266488.1:p.Pro1086=
XM_005266432.2:c.2806C=	XP_005266489.1:p.Pro936=
XM_006719837.2:c.3196C=	XP_006719900.1:p.Pro1066=
XM_006719838.1:c.1108C=	XP_006719901.1:p.Pro370=
XM_006719839.1:c.925C=	XP_006719902.1:p.Pro309=
XM_011535117.1:c.3196C=	XP_011533419.1:p.Pro1066=
XM_011535118.1:c.3157C=	XP_011533420.1:p.Pro1053=
XM_011535119.1:c.3109C=	XP_011533421.1:p.Pro1037=
XM_011535120.1:c.2878C=	XP_011533422.1:p.Pro960=
XM_011535121.1:c.2779C=	XP_011533423.1:p.Pro927=
XM_011535122.1:c.1960C=	XP_011533424.1:p.Pro654=
XR_941601.1:n.3511C=
XR_941602.1:n.3511C=
XR_941603.1:n.3511C=
XR_941604.1:n.3511C=
NM_001330578.1:c.3058C=	NP_001317507.1:p.Pro1020=
NM_001330579.1:c.3040C=	NP_001317508.1:p.Pro1014=
XM_005266424.4:c.3196C=	XP_005266481.1:p.Pro1066=
XM_005266430.4:c.3292C=	XP_005266487.1:p.Pro1098=
XM_005266431.4:c.3256C=	XP_005266488.1:p.Pro1086=
XM_006719837.3:c.3196C=	XP_006719900.1:p.Pro1066=
XM_011535117.3:c.3196C=	XP_011533419.1:p.Pro1066=
XM_017020627.1:c.3196C=	XP_016876116.1:p.Pro1066=
NM_000053.4:c.3292C= MANE Select	NP_000044.2:p.Pro1098=
NM_001005918.3:c.2671C=	NP_001005918.1:p.Pro891=
NM_001330579.2:c.3040C=	NP_001317508.1:p.Pro1014=
NM_001243182.2:c.2959C=	NP_001230111.1:p.Pro987=
NM_001330578.2:c.3058C=	NP_001317507.1:p.Pro1020=