Canonical Allele Identifier: CA2091559378

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941111C= , CM000675.2:g.51941111C=	GRCh38
NC_000013.10:g.52515247C= , CM000675.1:g.52515247C=	GRCh37
NC_000013.9:g.51413248C=	NCBI36
NG_008806.1:g.75384G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3526G= MANE Select	NP_000044.2:p.Gly1176=
ENST00000242839.10:c.3526G= MANE Select	ENSP00000242839.5:p.Gly1176=
NM_000053.3:c.3526G=	NP_000044.2:p.Gly1176=
NM_001005918.2:c.2905G=	NP_001005918.1:p.Gly969=
NM_001005918.3:c.2905G=	NP_001005918.1:p.Gly969=
NM_001243182.1:c.3193G=	NP_001230111.1:p.Gly1065=
NM_001243182.2:c.3193G=	NP_001230111.1:p.Gly1065=
NM_001330578.1:c.3292G=	NP_001317507.1:p.Gly1098=
NM_001330578.2:c.3292G=	NP_001317507.1:p.Gly1098=
NM_001330579.1:c.3274G=	NP_001317508.1:p.Gly1092=
NM_001330579.2:c.3274G=	NP_001317508.1:p.Gly1092=
ENST00000242839.8:c.3526G=	ENSP00000242839.4:p.Gly1176=
ENST00000344297.8:c.2905G=	ENSP00000342559.5:p.Gly969=
ENST00000344297.9:c.2905G=	ENSP00000342559.5:p.Gly969=
ENST00000400366.5:c.3193G=	ENSP00000383217.3:p.Gly1065=
ENST00000400366.6:c.3193G=	ENSP00000383217.3:p.Gly1065=
ENST00000400370.8:c.2236G=	ENSP00000383221.3:p.Gly746=
ENST00000418097.7:c.3331G=	ENSP00000393343.2:p.Gly1111=
ENST00000448424.6:c.3292G=	ENSP00000416738.2:p.Gly1098=
ENST00000448424.7:c.3274G=	ENSP00000416738.3:p.Gly1092=
ENST00000634296.1:c.1304G=
ENST00000634296.2:c.*1176G=	ENSP00000489512.2:n.*1176G=
ENST00000634308.1:c.*627G=	ENSP00000489234.1:n.*627G=
ENST00000634620.1:n.4270G=
ENST00000634810.1:n.2871G=
ENST00000634844.1:c.3382G=	ENSP00000489398.1:p.Gly1128=
ENST00000673772.1:c.3292G=	ENSP00000501168.1:p.Gly1098=
ENST00000673864.2:c.*2270G=	ENSP00000501045.2:n.*2270G=
ENST00000673867.1:n.3665G=
ENST00000674126.1:n.3889G=
ENST00000674147.1:c.2461G=	ENSP00000500964.1:p.Gly821=
ENST00000674147.2:c.2905G=	ENSP00000500964.2:p.Gly969=
XM_005266423.2:c.3430G=	XP_005266480.1:p.Gly1144=
XM_005266424.3:c.3430G=	XP_005266481.1:p.Gly1144=
XM_005266424.4:c.3430G=	XP_005266481.1:p.Gly1144=
XM_005266427.2:c.3292G=	XP_005266484.1:p.Gly1098=
XM_005266428.1:c.3274G=	XP_005266485.1:p.Gly1092=
XM_005266430.3:c.3526G=	XP_005266487.1:p.Gly1176=
XM_005266430.4:c.3526G=	XP_005266487.1:p.Gly1176=
XM_005266431.2:c.3490G=	XP_005266488.1:p.Gly1164=
XM_005266431.4:c.3490G=	XP_005266488.1:p.Gly1164=
XM_005266432.2:c.3040G=	XP_005266489.1:p.Gly1014=
XM_006719837.2:c.3430G=	XP_006719900.1:p.Gly1144=
XM_006719837.3:c.3430G=	XP_006719900.1:p.Gly1144=
XM_006719838.1:c.1342G=	XP_006719901.1:p.Gly448=
XM_006719839.1:c.1159G=	XP_006719902.1:p.Gly387=
XM_011535117.1:c.3430G=	XP_011533419.1:p.Gly1144=
XM_011535117.3:c.3430G=	XP_011533419.1:p.Gly1144=
XM_011535118.1:c.3391G=	XP_011533420.1:p.Gly1131=
XM_011535119.1:c.3343G=	XP_011533421.1:p.Gly1115=
XM_011535120.1:c.3112G=	XP_011533422.1:p.Gly1038=
XM_011535121.1:c.3013G=	XP_011533423.1:p.Gly1005=
XM_011535122.1:c.2194G=	XP_011533424.1:p.Gly732=
XM_017020627.1:c.3430G=	XP_016876116.1:p.Gly1144=
XR_941601.1:n.3745G=
XR_941602.1:n.3745G=
XR_941603.1:n.3745G=
XR_941604.1:n.3745G=