Canonical Allele Identifier: CA2091553667

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937478T= , CM000675.2:g.51937478T=	GRCh38
NC_000013.10:g.52511614T= , CM000675.1:g.52511614T=	GRCh37
NC_000013.9:g.51409615T=	NCBI36
NG_008806.1:g.79017A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1551A=	ENSP00000489512.2:n.*1551A=
ENST00000673864.2:c.*2645A=	ENSP00000501045.2:n.*2645A=
ENST00000674147.2:c.3280A=	ENSP00000500964.2:p.Arg1094=
ENST00000242839.10:c.3901A= MANE Select	ENSP00000242839.5:p.Arg1301=
ENST00000344297.9:c.3280A=	ENSP00000342559.5:p.Arg1094=
ENST00000400366.6:c.3568A=	ENSP00000383217.3:p.Arg1190=
ENST00000448424.7:c.3649A=	ENSP00000416738.3:p.Arg1217=
ENST00000673696.1:n.1142A=
ENST00000673772.1:c.3667A=	ENSP00000501168.1:p.Arg1223=
ENST00000673867.1:n.4040A=
ENST00000673923.1:n.767A=
ENST00000674147.1:c.2836A=	ENSP00000500964.1:p.Arg946=
ENST00000242839.8:c.3901A=	ENSP00000242839.4:p.Arg1301=
ENST00000344297.8:c.3280A=	ENSP00000342559.5:p.Arg1094=
ENST00000400366.5:c.3568A=	ENSP00000383217.3:p.Arg1190=
ENST00000400370.8:c.2611A=	ENSP00000383221.3:p.Arg871=
ENST00000418097.7:c.3706A=	ENSP00000393343.2:p.Arg1236=
ENST00000448424.6:c.3667A=	ENSP00000416738.2:p.Arg1223=
ENST00000634296.1:c.1679A=
ENST00000634308.1:c.*1002A=	ENSP00000489234.1:n.*1002A=
ENST00000634620.1:n.4645A=
ENST00000634810.1:n.3246A=
ENST00000634844.1:c.3757A=	ENSP00000489398.1:p.Arg1253=
NM_000053.3:c.3901A=	NP_000044.2:p.Arg1301=
NM_001005918.2:c.3280A=	NP_001005918.1:p.Arg1094=
NM_001243182.1:c.3568A=	NP_001230111.1:p.Arg1190=
XM_005266423.2:c.3805A=	XP_005266480.1:p.Arg1269=
XM_005266424.3:c.3805A=	XP_005266481.1:p.Arg1269=
XM_005266427.2:c.3667A=	XP_005266484.1:p.Arg1223=
XM_005266428.1:c.3649A=	XP_005266485.1:p.Arg1217=
XM_005266430.3:c.3901A=	XP_005266487.1:p.Arg1301=
XM_005266431.2:c.3865A=	XP_005266488.1:p.Arg1289=
XM_005266432.2:c.3415A=	XP_005266489.1:p.Arg1139=
XM_006719837.2:c.3805A=	XP_006719900.1:p.Arg1269=
XM_006719838.1:c.1717A=	XP_006719901.1:p.Arg573=
XM_006719839.1:c.1534A=	XP_006719902.1:p.Arg512=
XM_011535117.1:c.3805A=	XP_011533419.1:p.Arg1269=
XM_011535118.1:c.3766A=	XP_011533420.1:p.Arg1256=
XM_011535119.1:c.3718A=	XP_011533421.1:p.Arg1240=
XM_011535120.1:c.3487A=	XP_011533422.1:p.Arg1163=
XM_011535121.1:c.3388A=	XP_011533423.1:p.Arg1130=
XM_011535122.1:c.2569A=	XP_011533424.1:p.Arg857=
XR_941601.1:n.4120A=
XR_941602.1:n.4120A=
XR_941603.1:n.4120A=
XR_941604.1:n.4120A=
NM_001330578.1:c.3667A=	NP_001317507.1:p.Arg1223=
NM_001330579.1:c.3649A=	NP_001317508.1:p.Arg1217=
XM_005266424.4:c.3805A=	XP_005266481.1:p.Arg1269=
XM_005266430.4:c.3901A=	XP_005266487.1:p.Arg1301=
XM_005266431.4:c.3865A=	XP_005266488.1:p.Arg1289=
XM_006719837.3:c.3805A=	XP_006719900.1:p.Arg1269=
XM_011535117.3:c.3805A=	XP_011533419.1:p.Arg1269=
XM_017020627.1:c.3805A=	XP_016876116.1:p.Arg1269=
NM_000053.4:c.3901A= MANE Select	NP_000044.2:p.Arg1301=
NM_001005918.3:c.3280A=	NP_001005918.1:p.Arg1094=
NM_001330579.2:c.3649A=	NP_001317508.1:p.Arg1217=
NM_001243182.2:c.3568A=	NP_001230111.1:p.Arg1190=
NM_001330578.2:c.3667A=	NP_001317507.1:p.Arg1223=