Canonical Allele Identifier: CA2091566209

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946440G= , CM000675.2:g.51946440G=	GRCh38
NC_000013.10:g.52520576G= , CM000675.1:g.52520576G=	GRCh37
NC_000013.9:g.51418577G=	NCBI36
NG_008806.1:g.70055C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*737C=	ENSP00000489512.2:n.*737C=
ENST00000673864.2:c.*1648C=	ENSP00000501045.2:n.*1648C=
ENST00000674147.2:c.2283C=	ENSP00000500964.2:p.Ile761=
ENST00000242839.10:c.2904C= MANE Select	ENSP00000242839.5:p.Ile968=
ENST00000344297.9:c.2283C=	ENSP00000342559.5:p.Ile761=
ENST00000400366.6:c.2571C=	ENSP00000383217.3:p.Ile857=
ENST00000448424.7:c.2652C=	ENSP00000416738.3:p.Ile884=
ENST00000673772.1:c.2670C=	ENSP00000501168.1:p.Ile890=
ENST00000673867.1:n.1051C=
ENST00000674126.1:n.3267C=
ENST00000674147.1:c.1839C=	ENSP00000500964.1:p.Ile613=
ENST00000242839.8:c.2904C=	ENSP00000242839.4:p.Ile968=
ENST00000344297.8:c.2283C=	ENSP00000342559.5:p.Ile761=
ENST00000400366.5:c.2571C=	ENSP00000383217.3:p.Ile857=
ENST00000400370.8:c.1614C=	ENSP00000383221.3:p.Ile538=
ENST00000418097.7:c.2866-2149C=	ENSP00000393343.2:n.2866-2149C=
ENST00000448424.6:c.2670C=	ENSP00000416738.2:p.Ile890=
ENST00000466629.1:n.124C=
ENST00000634296.1:c.865C=
ENST00000634308.1:c.*5C=	ENSP00000489234.1:n.*5C=
ENST00000634620.1:n.3648C=
ENST00000634810.1:n.2249C=
ENST00000634844.1:c.2760C=	ENSP00000489398.1:p.Ile920=
ENST00000635406.1:n.250C=
NM_000053.3:c.2904C=	NP_000044.2:p.Ile968=
NM_001005918.2:c.2283C=	NP_001005918.1:p.Ile761=
NM_001243182.1:c.2571C=	NP_001230111.1:p.Ile857=
XM_005266423.2:c.2808C=	XP_005266480.1:p.Ile936=
XM_005266424.3:c.2808C=	XP_005266481.1:p.Ile936=
XM_005266427.2:c.2670C=	XP_005266484.1:p.Ile890=
XM_005266428.1:c.2652C=	XP_005266485.1:p.Ile884=
XM_005266430.3:c.2904C=	XP_005266487.1:p.Ile968=
XM_005266431.2:c.2868C=	XP_005266488.1:p.Ile956=
XM_005266432.2:c.2418C=	XP_005266489.1:p.Ile806=
XM_006719837.2:c.2808C=	XP_006719900.1:p.Ile936=
XM_006719838.1:c.720C=	XP_006719901.1:p.Ile240=
XM_006719839.1:c.720C=	XP_006719902.1:p.Ile240=
XM_011535117.1:c.2808C=	XP_011533419.1:p.Ile936=
XM_011535118.1:c.2769C=	XP_011533420.1:p.Ile923=
XM_011535119.1:c.2904C=	XP_011533421.1:p.Ile968=
XM_011535120.1:c.2490C=	XP_011533422.1:p.Ile830=
XM_011535121.1:c.2730+3567C=	XP_011533423.1:n.2730+3567C=
XM_011535122.1:c.1572C=	XP_011533424.1:p.Ile524=
XR_941601.1:n.3123C=
XR_941602.1:n.3123C=
XR_941603.1:n.3123C=
XR_941604.1:n.3123C=
NM_001330578.1:c.2670C=	NP_001317507.1:p.Ile890=
NM_001330579.1:c.2652C=	NP_001317508.1:p.Ile884=
XM_005266424.4:c.2808C=	XP_005266481.1:p.Ile936=
XM_005266430.4:c.2904C=	XP_005266487.1:p.Ile968=
XM_005266431.4:c.2868C=	XP_005266488.1:p.Ile956=
XM_006719837.3:c.2808C=	XP_006719900.1:p.Ile936=
XM_011535117.3:c.2808C=	XP_011533419.1:p.Ile936=
XM_017020627.1:c.2808C=	XP_016876116.1:p.Ile936=
NM_000053.4:c.2904C= MANE Select	NP_000044.2:p.Ile968=
NM_001005918.3:c.2283C=	NP_001005918.1:p.Ile761=
NM_001330579.2:c.2652C=	NP_001317508.1:p.Ile884=
NM_001243182.2:c.2571C=	NP_001230111.1:p.Ile857=
NM_001330578.2:c.2670C=	NP_001317507.1:p.Ile890=