Canonical Allele Identifier: CA2091553693

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937487C= , CM000675.2:g.51937487C=	GRCh38
NC_000013.10:g.52511623C= , CM000675.1:g.52511623C=	GRCh37
NC_000013.9:g.51409624C=	NCBI36
NG_008806.1:g.79008G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1542G=	ENSP00000489512.2:n.*1542G=
ENST00000673864.2:c.*2636G=	ENSP00000501045.2:n.*2636G=
ENST00000674147.2:c.3271G=	ENSP00000500964.2:p.Val1091=
ENST00000242839.10:c.3892G= MANE Select	ENSP00000242839.5:p.Val1298=
ENST00000344297.9:c.3271G=	ENSP00000342559.5:p.Val1091=
ENST00000400366.6:c.3559G=	ENSP00000383217.3:p.Val1187=
ENST00000448424.7:c.3640G=	ENSP00000416738.3:p.Val1214=
ENST00000673696.1:n.1133G=
ENST00000673772.1:c.3658G=	ENSP00000501168.1:p.Val1220=
ENST00000673867.1:n.4031G=
ENST00000673923.1:n.758G=
ENST00000674147.1:c.2827G=	ENSP00000500964.1:p.Val943=
ENST00000242839.8:c.3892G=	ENSP00000242839.4:p.Val1298=
ENST00000344297.8:c.3271G=	ENSP00000342559.5:p.Val1091=
ENST00000400366.5:c.3559G=	ENSP00000383217.3:p.Val1187=
ENST00000400370.8:c.2602G=	ENSP00000383221.3:p.Val868=
ENST00000418097.7:c.3697G=	ENSP00000393343.2:p.Val1233=
ENST00000448424.6:c.3658G=	ENSP00000416738.2:p.Val1220=
ENST00000634296.1:c.1670G=
ENST00000634308.1:c.*993G=	ENSP00000489234.1:n.*993G=
ENST00000634620.1:n.4636G=
ENST00000634810.1:n.3237G=
ENST00000634844.1:c.3748G=	ENSP00000489398.1:p.Val1250=
NM_000053.3:c.3892G=	NP_000044.2:p.Val1298=
NM_001005918.2:c.3271G=	NP_001005918.1:p.Val1091=
NM_001243182.1:c.3559G=	NP_001230111.1:p.Val1187=
XM_005266423.2:c.3796G=	XP_005266480.1:p.Val1266=
XM_005266424.3:c.3796G=	XP_005266481.1:p.Val1266=
XM_005266427.2:c.3658G=	XP_005266484.1:p.Val1220=
XM_005266428.1:c.3640G=	XP_005266485.1:p.Val1214=
XM_005266430.3:c.3892G=	XP_005266487.1:p.Val1298=
XM_005266431.2:c.3856G=	XP_005266488.1:p.Val1286=
XM_005266432.2:c.3406G=	XP_005266489.1:p.Val1136=
XM_006719837.2:c.3796G=	XP_006719900.1:p.Val1266=
XM_006719838.1:c.1708G=	XP_006719901.1:p.Val570=
XM_006719839.1:c.1525G=	XP_006719902.1:p.Val509=
XM_011535117.1:c.3796G=	XP_011533419.1:p.Val1266=
XM_011535118.1:c.3757G=	XP_011533420.1:p.Val1253=
XM_011535119.1:c.3709G=	XP_011533421.1:p.Val1237=
XM_011535120.1:c.3478G=	XP_011533422.1:p.Val1160=
XM_011535121.1:c.3379G=	XP_011533423.1:p.Val1127=
XM_011535122.1:c.2560G=	XP_011533424.1:p.Val854=
XR_941601.1:n.4111G=
XR_941602.1:n.4111G=
XR_941603.1:n.4111G=
XR_941604.1:n.4111G=
NM_001330578.1:c.3658G=	NP_001317507.1:p.Val1220=
NM_001330579.1:c.3640G=	NP_001317508.1:p.Val1214=
XM_005266424.4:c.3796G=	XP_005266481.1:p.Val1266=
XM_005266430.4:c.3892G=	XP_005266487.1:p.Val1298=
XM_005266431.4:c.3856G=	XP_005266488.1:p.Val1286=
XM_006719837.3:c.3796G=	XP_006719900.1:p.Val1266=
XM_011535117.3:c.3796G=	XP_011533419.1:p.Val1266=
XM_017020627.1:c.3796G=	XP_016876116.1:p.Val1266=
NM_000053.4:c.3892G= MANE Select	NP_000044.2:p.Val1298=
NM_001005918.3:c.3271G=	NP_001005918.1:p.Val1091=
NM_001330579.2:c.3640G=	NP_001317508.1:p.Val1214=
NM_001243182.2:c.3559G=	NP_001230111.1:p.Val1187=
NM_001330578.2:c.3658G=	NP_001317507.1:p.Val1220=