Canonical Allele Identifier: CA2091566206

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946437C= , CM000675.2:g.51946437C=	GRCh38
NC_000013.10:g.52520573C= , CM000675.1:g.52520573C=	GRCh37
NC_000013.9:g.51418574C=	NCBI36
NG_008806.1:g.70058G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*740G=	ENSP00000489512.2:n.*740G=
ENST00000673864.2:c.*1651G=	ENSP00000501045.2:n.*1651G=
ENST00000674147.2:c.2286G=	ENSP00000500964.2:p.Arg762=
ENST00000242839.10:c.2907G= MANE Select	ENSP00000242839.5:p.Arg969=
ENST00000344297.9:c.2286G=	ENSP00000342559.5:p.Arg762=
ENST00000400366.6:c.2574G=	ENSP00000383217.3:p.Arg858=
ENST00000448424.7:c.2655G=	ENSP00000416738.3:p.Arg885=
ENST00000673772.1:c.2673G=	ENSP00000501168.1:p.Arg891=
ENST00000673867.1:n.1054G=
ENST00000674126.1:n.3270G=
ENST00000674147.1:c.1842G=	ENSP00000500964.1:p.Arg614=
ENST00000242839.8:c.2907G=	ENSP00000242839.4:p.Arg969=
ENST00000344297.8:c.2286G=	ENSP00000342559.5:p.Arg762=
ENST00000400366.5:c.2574G=	ENSP00000383217.3:p.Arg858=
ENST00000400370.8:c.1617G=	ENSP00000383221.3:p.Arg539=
ENST00000418097.7:c.2866-2146G=	ENSP00000393343.2:n.2866-2146G=
ENST00000448424.6:c.2673G=	ENSP00000416738.2:p.Arg891=
ENST00000466629.1:n.127G=
ENST00000634296.1:c.868G=
ENST00000634308.1:c.*8G=	ENSP00000489234.1:n.*8G=
ENST00000634620.1:n.3651G=
ENST00000634810.1:n.2252G=
ENST00000634844.1:c.2763G=	ENSP00000489398.1:p.Arg921=
ENST00000635406.1:n.253G=
NM_000053.3:c.2907G=	NP_000044.2:p.Arg969=
NM_001005918.2:c.2286G=	NP_001005918.1:p.Arg762=
NM_001243182.1:c.2574G=	NP_001230111.1:p.Arg858=
XM_005266423.2:c.2811G=	XP_005266480.1:p.Arg937=
XM_005266424.3:c.2811G=	XP_005266481.1:p.Arg937=
XM_005266427.2:c.2673G=	XP_005266484.1:p.Arg891=
XM_005266428.1:c.2655G=	XP_005266485.1:p.Arg885=
XM_005266430.3:c.2907G=	XP_005266487.1:p.Arg969=
XM_005266431.2:c.2871G=	XP_005266488.1:p.Arg957=
XM_005266432.2:c.2421G=	XP_005266489.1:p.Arg807=
XM_006719837.2:c.2811G=	XP_006719900.1:p.Arg937=
XM_006719838.1:c.723G=	XP_006719901.1:p.Arg241=
XM_006719839.1:c.723G=	XP_006719902.1:p.Arg241=
XM_011535117.1:c.2811G=	XP_011533419.1:p.Arg937=
XM_011535118.1:c.2772G=	XP_011533420.1:p.Arg924=
XM_011535119.1:c.2907G=	XP_011533421.1:p.Arg969=
XM_011535120.1:c.2493G=	XP_011533422.1:p.Arg831=
XM_011535121.1:c.2730+3570G=	XP_011533423.1:n.2730+3570G=
XM_011535122.1:c.1575G=	XP_011533424.1:p.Arg525=
XR_941601.1:n.3126G=
XR_941602.1:n.3126G=
XR_941603.1:n.3126G=
XR_941604.1:n.3126G=
NM_001330578.1:c.2673G=	NP_001317507.1:p.Arg891=
NM_001330579.1:c.2655G=	NP_001317508.1:p.Arg885=
XM_005266424.4:c.2811G=	XP_005266481.1:p.Arg937=
XM_005266430.4:c.2907G=	XP_005266487.1:p.Arg969=
XM_005266431.4:c.2871G=	XP_005266488.1:p.Arg957=
XM_006719837.3:c.2811G=	XP_006719900.1:p.Arg937=
XM_011535117.3:c.2811G=	XP_011533419.1:p.Arg937=
XM_017020627.1:c.2811G=	XP_016876116.1:p.Arg937=
NM_000053.4:c.2907G= MANE Select	NP_000044.2:p.Arg969=
NM_001005918.3:c.2286G=	NP_001005918.1:p.Arg762=
NM_001330579.2:c.2655G=	NP_001317508.1:p.Arg885=
NM_001243182.2:c.2574G=	NP_001230111.1:p.Arg858=
NM_001330578.2:c.2673G=	NP_001317507.1:p.Arg891=