Canonical Allele Identifier: CA2091566200

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946420G= , CM000675.2:g.51946420G=	GRCh38
NC_000013.10:g.52520556G= , CM000675.1:g.52520556G=	GRCh37
NC_000013.9:g.51418557G=	NCBI36
NG_008806.1:g.70075C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*757C=	ENSP00000489512.2:n.*757C=
ENST00000673864.2:c.*1668C=	ENSP00000501045.2:n.*1668C=
ENST00000674147.2:c.2303C=	ENSP00000500964.2:p.Ser768=
ENST00000242839.10:c.2924C= MANE Select	ENSP00000242839.5:p.Ser975=
ENST00000344297.9:c.2303C=	ENSP00000342559.5:p.Ser768=
ENST00000400366.6:c.2591C=	ENSP00000383217.3:p.Ser864=
ENST00000448424.7:c.2672C=	ENSP00000416738.3:p.Ser891=
ENST00000673772.1:c.2690C=	ENSP00000501168.1:p.Ser897=
ENST00000673867.1:n.1071C=
ENST00000674126.1:n.3287C=
ENST00000674147.1:c.1859C=	ENSP00000500964.1:p.Ser620=
ENST00000242839.8:c.2924C=	ENSP00000242839.4:p.Ser975=
ENST00000344297.8:c.2303C=	ENSP00000342559.5:p.Ser768=
ENST00000400366.5:c.2591C=	ENSP00000383217.3:p.Ser864=
ENST00000400370.8:c.1634C=	ENSP00000383221.3:p.Ser545=
ENST00000418097.7:c.2866-2129C=	ENSP00000393343.2:n.2866-2129C=
ENST00000448424.6:c.2690C=	ENSP00000416738.2:p.Ser897=
ENST00000466629.1:n.144C=
ENST00000634296.1:c.885C=
ENST00000634308.1:c.*25C=	ENSP00000489234.1:n.*25C=
ENST00000634620.1:n.3668C=
ENST00000634810.1:n.2269C=
ENST00000634844.1:c.2780C=	ENSP00000489398.1:p.Ser927=
ENST00000635406.1:n.270C=
NM_000053.3:c.2924C=	NP_000044.2:p.Ser975=
NM_001005918.2:c.2303C=	NP_001005918.1:p.Ser768=
NM_001243182.1:c.2591C=	NP_001230111.1:p.Ser864=
XM_005266423.2:c.2828C=	XP_005266480.1:p.Ser943=
XM_005266424.3:c.2828C=	XP_005266481.1:p.Ser943=
XM_005266427.2:c.2690C=	XP_005266484.1:p.Ser897=
XM_005266428.1:c.2672C=	XP_005266485.1:p.Ser891=
XM_005266430.3:c.2924C=	XP_005266487.1:p.Ser975=
XM_005266431.2:c.2888C=	XP_005266488.1:p.Ser963=
XM_005266432.2:c.2438C=	XP_005266489.1:p.Ser813=
XM_006719837.2:c.2828C=	XP_006719900.1:p.Ser943=
XM_006719838.1:c.740C=	XP_006719901.1:p.Ser247=
XM_006719839.1:c.740C=	XP_006719902.1:p.Ser247=
XM_011535117.1:c.2828C=	XP_011533419.1:p.Ser943=
XM_011535118.1:c.2789C=	XP_011533420.1:p.Ser930=
XM_011535119.1:c.2924C=	XP_011533421.1:p.Ser975=
XM_011535120.1:c.2510C=	XP_011533422.1:p.Ser837=
XM_011535121.1:c.2730+3587C=	XP_011533423.1:n.2730+3587C=
XM_011535122.1:c.1592C=	XP_011533424.1:p.Ser531=
XR_941601.1:n.3143C=
XR_941602.1:n.3143C=
XR_941603.1:n.3143C=
XR_941604.1:n.3143C=
NM_001330578.1:c.2690C=	NP_001317507.1:p.Ser897=
NM_001330579.1:c.2672C=	NP_001317508.1:p.Ser891=
XM_005266424.4:c.2828C=	XP_005266481.1:p.Ser943=
XM_005266430.4:c.2924C=	XP_005266487.1:p.Ser975=
XM_005266431.4:c.2888C=	XP_005266488.1:p.Ser963=
XM_006719837.3:c.2828C=	XP_006719900.1:p.Ser943=
XM_011535117.3:c.2828C=	XP_011533419.1:p.Ser943=
XM_017020627.1:c.2828C=	XP_016876116.1:p.Ser943=
NM_000053.4:c.2924C= MANE Select	NP_000044.2:p.Ser975=
NM_001005918.3:c.2303C=	NP_001005918.1:p.Ser768=
NM_001330579.2:c.2672C=	NP_001317508.1:p.Ser891=
NM_001243182.2:c.2591C=	NP_001230111.1:p.Ser864=
NM_001330578.2:c.2690C=	NP_001317507.1:p.Ser897=