Canonical Allele Identifier: CA2091564071

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944238C= , CM000675.2:g.51944238C=	GRCh38
NC_000013.10:g.52518374C= , CM000675.1:g.52518374C=	GRCh37
NC_000013.9:g.51416375C=	NCBI36
NG_008806.1:g.72257G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1684G=	ENSP00000489512.2:n.*894-1684G=
ENST00000673864.2:c.*1858G=	ENSP00000501045.2:n.*1858G=
ENST00000674147.2:c.2493G=	ENSP00000500964.2:p.Arg831=
ENST00000242839.10:c.3114G= MANE Select	ENSP00000242839.5:p.Arg1038=
ENST00000344297.9:c.2493G=	ENSP00000342559.5:p.Arg831=
ENST00000400366.6:c.2781G=	ENSP00000383217.3:p.Arg927=
ENST00000448424.7:c.2862G=	ENSP00000416738.3:p.Arg954=
ENST00000673772.1:c.2880G=	ENSP00000501168.1:p.Arg960=
ENST00000673867.1:n.3253G=
ENST00000674126.1:n.3477G=
ENST00000674147.1:c.2049G=	ENSP00000500964.1:p.Arg683=
ENST00000242839.8:c.3114G=	ENSP00000242839.4:p.Arg1038=
ENST00000344297.8:c.2493G=	ENSP00000342559.5:p.Arg831=
ENST00000400366.5:c.2781G=	ENSP00000383217.3:p.Arg927=
ENST00000400370.8:c.1824G=	ENSP00000383221.3:p.Arg608=
ENST00000418097.7:c.2919G=	ENSP00000393343.2:p.Arg973=
ENST00000448424.6:c.2880G=	ENSP00000416738.2:p.Arg960=
ENST00000466629.1:n.334G=
ENST00000634296.1:c.1022-1684G=
ENST00000634308.1:c.*215G=	ENSP00000489234.1:n.*215G=
ENST00000634620.1:n.3858G=
ENST00000634810.1:n.2459G=
ENST00000634844.1:c.2970G=	ENSP00000489398.1:p.Arg990=
ENST00000635406.1:n.460G=
NM_000053.3:c.3114G=	NP_000044.2:p.Arg1038=
NM_001005918.2:c.2493G=	NP_001005918.1:p.Arg831=
NM_001243182.1:c.2781G=	NP_001230111.1:p.Arg927=
XM_005266423.2:c.3018G=	XP_005266480.1:p.Arg1006=
XM_005266424.3:c.3018G=	XP_005266481.1:p.Arg1006=
XM_005266427.2:c.2880G=	XP_005266484.1:p.Arg960=
XM_005266428.1:c.2862G=	XP_005266485.1:p.Arg954=
XM_005266430.3:c.3114G=	XP_005266487.1:p.Arg1038=
XM_005266431.2:c.3078G=	XP_005266488.1:p.Arg1026=
XM_005266432.2:c.2628G=	XP_005266489.1:p.Arg876=
XM_006719837.2:c.3018G=	XP_006719900.1:p.Arg1006=
XM_006719838.1:c.930G=	XP_006719901.1:p.Arg310=
XM_006719839.1:c.877-1684G=	XP_006719902.1:n.877-1684G=
XM_011535117.1:c.3018G=	XP_011533419.1:p.Arg1006=
XM_011535118.1:c.2979G=	XP_011533420.1:p.Arg993=
XM_011535119.1:c.3061-1684G=	XP_011533421.1:n.3061-1684G=
XM_011535120.1:c.2700G=	XP_011533422.1:p.Arg900=
XM_011535121.1:c.2731-1684G=	XP_011533423.1:n.2731-1684G=
XM_011535122.1:c.1782G=	XP_011533424.1:p.Arg594=
XR_941601.1:n.3333G=
XR_941602.1:n.3333G=
XR_941603.1:n.3333G=
XR_941604.1:n.3333G=
NM_001330578.1:c.2880G=	NP_001317507.1:p.Arg960=
NM_001330579.1:c.2862G=	NP_001317508.1:p.Arg954=
XM_005266424.4:c.3018G=	XP_005266481.1:p.Arg1006=
XM_005266430.4:c.3114G=	XP_005266487.1:p.Arg1038=
XM_005266431.4:c.3078G=	XP_005266488.1:p.Arg1026=
XM_006719837.3:c.3018G=	XP_006719900.1:p.Arg1006=
XM_011535117.3:c.3018G=	XP_011533419.1:p.Arg1006=
XM_017020627.1:c.3018G=	XP_016876116.1:p.Arg1006=
NM_000053.4:c.3114G= MANE Select	NP_000044.2:p.Arg1038=
NM_001005918.3:c.2493G=	NP_001005918.1:p.Arg831=
NM_001330579.2:c.2862G=	NP_001317508.1:p.Arg954=
NM_001243182.2:c.2781G=	NP_001230111.1:p.Arg927=
NM_001330578.2:c.2880G=	NP_001317507.1:p.Arg960=