Canonical Allele Identifier: CA2091541961

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950091A= , CM000675.2:g.51950091A=	GRCh38
NC_000013.10:g.52524227A= , CM000675.1:g.52524227A=	GRCh37
NC_000013.9:g.51422228A=	NCBI36
NG_008806.1:g.66404T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*479T=	ENSP00000489512.2:n.*479T=
ENST00000673864.2:c.*1390T=	ENSP00000501045.2:n.*1390T=
ENST00000674147.2:c.2160T=	ENSP00000500964.2:p.Ser720=
ENST00000242839.10:c.2646T= MANE Select	ENSP00000242839.5:p.Ser882=
ENST00000344297.9:c.2160T=	ENSP00000342559.5:p.Ser720=
ENST00000400366.6:c.2313T=	ENSP00000383217.3:p.Ser771=
ENST00000448424.7:c.2394T=	ENSP00000416738.3:p.Ser798=
ENST00000673772.1:c.2412T=	ENSP00000501168.1:p.Ser804=
ENST00000674147.1:c.1716T=	ENSP00000500964.1:p.Ser572=
ENST00000242839.8:c.2646T=	ENSP00000242839.4:p.Ser882=
ENST00000344297.8:c.2160T=	ENSP00000342559.5:p.Ser720=
ENST00000400366.5:c.2313T=	ENSP00000383217.3:p.Ser771=
ENST00000400370.8:c.1356T=	ENSP00000383221.3:p.Ser452=
ENST00000418097.7:c.2646T=	ENSP00000393343.2:p.Ser882=
ENST00000448424.6:c.2412T=	ENSP00000416738.2:p.Ser804=
ENST00000634296.1:c.607T=
ENST00000634308.1:c.2412T=	ENSP00000489234.1:p.Ser804=
ENST00000634620.1:n.3444T=
ENST00000634810.1:n.1991T=
ENST00000634844.1:c.2502T=	ENSP00000489398.1:p.Ser834=
ENST00000635406.1:n.212-3613T=
NM_000053.3:c.2646T=	NP_000044.2:p.Ser882=
NM_001005918.2:c.2160T=	NP_001005918.1:p.Ser720=
NM_001243182.1:c.2313T=	NP_001230111.1:p.Ser771=
XM_005266423.2:c.2550T=	XP_005266480.1:p.Ser850=
XM_005266424.3:c.2550T=	XP_005266481.1:p.Ser850=
XM_005266427.2:c.2412T=	XP_005266484.1:p.Ser804=
XM_005266428.1:c.2394T=	XP_005266485.1:p.Ser798=
XM_005266430.3:c.2646T=	XP_005266487.1:p.Ser882=
XM_005266431.2:c.2610T=	XP_005266488.1:p.Ser870=
XM_005266432.2:c.2160T=	XP_005266489.1:p.Ser720=
XM_006719837.2:c.2550T=	XP_006719900.1:p.Ser850=
XM_006719838.1:c.462T=	XP_006719901.1:p.Ser154=
XM_006719839.1:c.462T=	XP_006719902.1:p.Ser154=
XM_011535117.1:c.2550T=	XP_011533419.1:p.Ser850=
XM_011535118.1:c.2646T=	XP_011533420.1:p.Ser882=
XM_011535119.1:c.2646T=	XP_011533421.1:p.Ser882=
XM_011535120.1:c.2232T=	XP_011533422.1:p.Ser744=
XM_011535121.1:c.2646T=	XP_011533423.1:p.Ser882=
XM_011535122.1:c.1314T=	XP_011533424.1:p.Ser438=
XR_941601.1:n.2865T=
XR_941602.1:n.2865T=
XR_941603.1:n.2865T=
XR_941604.1:n.2865T=
NM_001330578.1:c.2412T=	NP_001317507.1:p.Ser804=
NM_001330579.1:c.2394T=	NP_001317508.1:p.Ser798=
XM_005266424.4:c.2550T=	XP_005266481.1:p.Ser850=
XM_005266430.4:c.2646T=	XP_005266487.1:p.Ser882=
XM_005266431.4:c.2610T=	XP_005266488.1:p.Ser870=
XM_006719837.3:c.2550T=	XP_006719900.1:p.Ser850=
XM_011535117.3:c.2550T=	XP_011533419.1:p.Ser850=
XM_017020627.1:c.2550T=	XP_016876116.1:p.Ser850=
NM_000053.4:c.2646T= MANE Select	NP_000044.2:p.Ser882=
NM_001005918.3:c.2160T=	NP_001005918.1:p.Ser720=
NM_001330579.2:c.2394T=	NP_001317508.1:p.Ser798=
NM_001243182.2:c.2313T=	NP_001230111.1:p.Ser771=
NM_001330578.2:c.2412T=	NP_001317507.1:p.Ser804=