Canonical Allele Identifier: CA2091559283

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941081C= , CM000675.2:g.51941081C=	GRCh38
NC_000013.10:g.52515217C= , CM000675.1:g.52515217C=	GRCh37
NC_000013.9:g.51413218C=	NCBI36
NG_008806.1:g.75414G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1206G=	ENSP00000489512.2:n.*1206G=
ENST00000673864.2:c.*2300G=	ENSP00000501045.2:n.*2300G=
ENST00000674147.2:c.2935G=	ENSP00000500964.2:p.Gly979=
ENST00000242839.10:c.3556G= MANE Select	ENSP00000242839.5:p.Gly1186=
ENST00000344297.9:c.2935G=	ENSP00000342559.5:p.Gly979=
ENST00000400366.6:c.3223G=	ENSP00000383217.3:p.Gly1075=
ENST00000448424.7:c.3304G=	ENSP00000416738.3:p.Gly1102=
ENST00000673772.1:c.3322G=	ENSP00000501168.1:p.Gly1108=
ENST00000673867.1:n.3695G=
ENST00000674126.1:n.3919G=
ENST00000674147.1:c.2491G=	ENSP00000500964.1:p.Gly831=
ENST00000242839.8:c.3556G=	ENSP00000242839.4:p.Gly1186=
ENST00000344297.8:c.2935G=	ENSP00000342559.5:p.Gly979=
ENST00000400366.5:c.3223G=	ENSP00000383217.3:p.Gly1075=
ENST00000400370.8:c.2266G=	ENSP00000383221.3:p.Gly756=
ENST00000418097.7:c.3361G=	ENSP00000393343.2:p.Gly1121=
ENST00000448424.6:c.3322G=	ENSP00000416738.2:p.Gly1108=
ENST00000634296.1:c.1334G=
ENST00000634308.1:c.*657G=	ENSP00000489234.1:n.*657G=
ENST00000634620.1:n.4300G=
ENST00000634810.1:n.2901G=
ENST00000634844.1:c.3412G=	ENSP00000489398.1:p.Gly1138=
NM_000053.3:c.3556G=	NP_000044.2:p.Gly1186=
NM_001005918.2:c.2935G=	NP_001005918.1:p.Gly979=
NM_001243182.1:c.3223G=	NP_001230111.1:p.Gly1075=
XM_005266423.2:c.3460G=	XP_005266480.1:p.Gly1154=
XM_005266424.3:c.3460G=	XP_005266481.1:p.Gly1154=
XM_005266427.2:c.3322G=	XP_005266484.1:p.Gly1108=
XM_005266428.1:c.3304G=	XP_005266485.1:p.Gly1102=
XM_005266430.3:c.3556G=	XP_005266487.1:p.Gly1186=
XM_005266431.2:c.3520G=	XP_005266488.1:p.Gly1174=
XM_005266432.2:c.3070G=	XP_005266489.1:p.Gly1024=
XM_006719837.2:c.3460G=	XP_006719900.1:p.Gly1154=
XM_006719838.1:c.1372G=	XP_006719901.1:p.Gly458=
XM_006719839.1:c.1189G=	XP_006719902.1:p.Gly397=
XM_011535117.1:c.3460G=	XP_011533419.1:p.Gly1154=
XM_011535118.1:c.3421G=	XP_011533420.1:p.Gly1141=
XM_011535119.1:c.3373G=	XP_011533421.1:p.Gly1125=
XM_011535120.1:c.3142G=	XP_011533422.1:p.Gly1048=
XM_011535121.1:c.3043G=	XP_011533423.1:p.Gly1015=
XM_011535122.1:c.2224G=	XP_011533424.1:p.Gly742=
XR_941601.1:n.3775G=
XR_941602.1:n.3775G=
XR_941603.1:n.3775G=
XR_941604.1:n.3775G=
NM_001330578.1:c.3322G=	NP_001317507.1:p.Gly1108=
NM_001330579.1:c.3304G=	NP_001317508.1:p.Gly1102=
XM_005266424.4:c.3460G=	XP_005266481.1:p.Gly1154=
XM_005266430.4:c.3556G=	XP_005266487.1:p.Gly1186=
XM_005266431.4:c.3520G=	XP_005266488.1:p.Gly1174=
XM_006719837.3:c.3460G=	XP_006719900.1:p.Gly1154=
XM_011535117.3:c.3460G=	XP_011533419.1:p.Gly1154=
XM_017020627.1:c.3460G=	XP_016876116.1:p.Gly1154=
NM_000053.4:c.3556G= MANE Select	NP_000044.2:p.Gly1186=
NM_001005918.3:c.2935G=	NP_001005918.1:p.Gly979=
NM_001330579.2:c.3304G=	NP_001317508.1:p.Gly1102=
NM_001243182.2:c.3223G=	NP_001230111.1:p.Gly1075=
NM_001330578.2:c.3322G=	NP_001317507.1:p.Gly1108=