Canonical Allele Identifier: CA2091554101

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937583C= , CM000675.2:g.51937583C=	GRCh38
NC_000013.10:g.52511719C= , CM000675.1:g.52511719C=	GRCh37
NC_000013.9:g.51409720C=	NCBI36
NG_008806.1:g.78912G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1446G=	ENSP00000489512.2:n.*1446G=
ENST00000673864.2:c.*2540G=	ENSP00000501045.2:n.*2540G=
ENST00000674147.2:c.3175G=	ENSP00000500964.2:p.Gly1059=
ENST00000242839.10:c.3796G= MANE Select	ENSP00000242839.5:p.Gly1266=
ENST00000344297.9:c.3175G=	ENSP00000342559.5:p.Gly1059=
ENST00000400366.6:c.3463G=	ENSP00000383217.3:p.Gly1155=
ENST00000448424.7:c.3544G=	ENSP00000416738.3:p.Gly1182=
ENST00000673696.1:n.1037G=
ENST00000673772.1:c.3562G=	ENSP00000501168.1:p.Gly1188=
ENST00000673867.1:n.3935G=
ENST00000673923.1:n.662G=
ENST00000674147.1:c.2731G=	ENSP00000500964.1:p.Gly911=
ENST00000242839.8:c.3796G=	ENSP00000242839.4:p.Gly1266=
ENST00000344297.8:c.3175G=	ENSP00000342559.5:p.Gly1059=
ENST00000400366.5:c.3463G=	ENSP00000383217.3:p.Gly1155=
ENST00000400370.8:c.2506G=	ENSP00000383221.3:p.Gly836=
ENST00000418097.7:c.3601G=	ENSP00000393343.2:p.Gly1201=
ENST00000448424.6:c.3562G=	ENSP00000416738.2:p.Gly1188=
ENST00000634296.1:c.1574G=
ENST00000634308.1:c.*897G=	ENSP00000489234.1:n.*897G=
ENST00000634620.1:n.4540G=
ENST00000634810.1:n.3141G=
ENST00000634844.1:c.3652G=	ENSP00000489398.1:p.Gly1218=
NM_000053.3:c.3796G=	NP_000044.2:p.Gly1266=
NM_001005918.2:c.3175G=	NP_001005918.1:p.Gly1059=
NM_001243182.1:c.3463G=	NP_001230111.1:p.Gly1155=
XM_005266423.2:c.3700G=	XP_005266480.1:p.Gly1234=
XM_005266424.3:c.3700G=	XP_005266481.1:p.Gly1234=
XM_005266427.2:c.3562G=	XP_005266484.1:p.Gly1188=
XM_005266428.1:c.3544G=	XP_005266485.1:p.Gly1182=
XM_005266430.3:c.3796G=	XP_005266487.1:p.Gly1266=
XM_005266431.2:c.3760G=	XP_005266488.1:p.Gly1254=
XM_005266432.2:c.3310G=	XP_005266489.1:p.Gly1104=
XM_006719837.2:c.3700G=	XP_006719900.1:p.Gly1234=
XM_006719838.1:c.1612G=	XP_006719901.1:p.Gly538=
XM_006719839.1:c.1429G=	XP_006719902.1:p.Gly477=
XM_011535117.1:c.3700G=	XP_011533419.1:p.Gly1234=
XM_011535118.1:c.3661G=	XP_011533420.1:p.Gly1221=
XM_011535119.1:c.3613G=	XP_011533421.1:p.Gly1205=
XM_011535120.1:c.3382G=	XP_011533422.1:p.Gly1128=
XM_011535121.1:c.3283G=	XP_011533423.1:p.Gly1095=
XM_011535122.1:c.2464G=	XP_011533424.1:p.Gly822=
XR_941601.1:n.4015G=
XR_941602.1:n.4015G=
XR_941603.1:n.4015G=
XR_941604.1:n.4015G=
NM_001330578.1:c.3562G=	NP_001317507.1:p.Gly1188=
NM_001330579.1:c.3544G=	NP_001317508.1:p.Gly1182=
XM_005266424.4:c.3700G=	XP_005266481.1:p.Gly1234=
XM_005266430.4:c.3796G=	XP_005266487.1:p.Gly1266=
XM_005266431.4:c.3760G=	XP_005266488.1:p.Gly1254=
XM_006719837.3:c.3700G=	XP_006719900.1:p.Gly1234=
XM_011535117.3:c.3700G=	XP_011533419.1:p.Gly1234=
XM_017020627.1:c.3700G=	XP_016876116.1:p.Gly1234=
NM_000053.4:c.3796G= MANE Select	NP_000044.2:p.Gly1266=
NM_001005918.3:c.3175G=	NP_001005918.1:p.Gly1059=
NM_001330579.2:c.3544G=	NP_001317508.1:p.Gly1182=
NM_001243182.2:c.3463G=	NP_001230111.1:p.Gly1155=
NM_001330578.2:c.3562G=	NP_001317507.1:p.Gly1188=