Canonical Allele Identifier: CA2091554010

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937570T= , CM000675.2:g.51937570T=	GRCh38
NC_000013.10:g.52511706T= , CM000675.1:g.52511706T=	GRCh37
NC_000013.9:g.51409707T=	NCBI36
NG_008806.1:g.78925A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3809A= MANE Select	NP_000044.2:p.Asn1270=
ENST00000242839.10:c.3809A= MANE Select	ENSP00000242839.5:p.Asn1270=
NM_000053.3:c.3809A=	NP_000044.2:p.Asn1270=
NM_001005918.2:c.3188A=	NP_001005918.1:p.Asn1063=
NM_001005918.3:c.3188A=	NP_001005918.1:p.Asn1063=
NM_001243182.1:c.3476A=	NP_001230111.1:p.Asn1159=
NM_001243182.2:c.3476A=	NP_001230111.1:p.Asn1159=
NM_001330578.1:c.3575A=	NP_001317507.1:p.Asn1192=
NM_001330578.2:c.3575A=	NP_001317507.1:p.Asn1192=
NM_001330579.1:c.3557A=	NP_001317508.1:p.Asn1186=
NM_001330579.2:c.3557A=	NP_001317508.1:p.Asn1186=
ENST00000242839.8:c.3809A=	ENSP00000242839.4:p.Asn1270=
ENST00000344297.8:c.3188A=	ENSP00000342559.5:p.Asn1063=
ENST00000344297.9:c.3188A=	ENSP00000342559.5:p.Asn1063=
ENST00000400366.5:c.3476A=	ENSP00000383217.3:p.Asn1159=
ENST00000400366.6:c.3476A=	ENSP00000383217.3:p.Asn1159=
ENST00000400370.8:c.2519A=	ENSP00000383221.3:p.Asn840=
ENST00000418097.7:c.3614A=	ENSP00000393343.2:p.Asn1205=
ENST00000448424.6:c.3575A=	ENSP00000416738.2:p.Asn1192=
ENST00000448424.7:c.3557A=	ENSP00000416738.3:p.Asn1186=
ENST00000634296.1:c.1587A=
ENST00000634296.2:c.*1459A=	ENSP00000489512.2:n.*1459A=
ENST00000634308.1:c.*910A=	ENSP00000489234.1:n.*910A=
ENST00000634620.1:n.4553A=
ENST00000634810.1:n.3154A=
ENST00000634844.1:c.3665A=	ENSP00000489398.1:p.Asn1222=
ENST00000673696.1:n.1050A=
ENST00000673772.1:c.3575A=	ENSP00000501168.1:p.Asn1192=
ENST00000673864.2:c.*2553A=	ENSP00000501045.2:n.*2553A=
ENST00000673867.1:n.3948A=
ENST00000673923.1:n.675A=
ENST00000674147.1:c.2744A=	ENSP00000500964.1:p.Asn915=
ENST00000674147.2:c.3188A=	ENSP00000500964.2:p.Asn1063=
XM_005266423.2:c.3713A=	XP_005266480.1:p.Asn1238=
XM_005266424.3:c.3713A=	XP_005266481.1:p.Asn1238=
XM_005266424.4:c.3713A=	XP_005266481.1:p.Asn1238=
XM_005266427.2:c.3575A=	XP_005266484.1:p.Asn1192=
XM_005266428.1:c.3557A=	XP_005266485.1:p.Asn1186=
XM_005266430.3:c.3809A=	XP_005266487.1:p.Asn1270=
XM_005266430.4:c.3809A=	XP_005266487.1:p.Asn1270=
XM_005266431.2:c.3773A=	XP_005266488.1:p.Asn1258=
XM_005266431.4:c.3773A=	XP_005266488.1:p.Asn1258=
XM_005266432.2:c.3323A=	XP_005266489.1:p.Asn1108=
XM_006719837.2:c.3713A=	XP_006719900.1:p.Asn1238=
XM_006719837.3:c.3713A=	XP_006719900.1:p.Asn1238=
XM_006719838.1:c.1625A=	XP_006719901.1:p.Asn542=
XM_006719839.1:c.1442A=	XP_006719902.1:p.Asn481=
XM_011535117.1:c.3713A=	XP_011533419.1:p.Asn1238=
XM_011535117.3:c.3713A=	XP_011533419.1:p.Asn1238=
XM_011535118.1:c.3674A=	XP_011533420.1:p.Asn1225=
XM_011535119.1:c.3626A=	XP_011533421.1:p.Asn1209=
XM_011535120.1:c.3395A=	XP_011533422.1:p.Asn1132=
XM_011535121.1:c.3296A=	XP_011533423.1:p.Asn1099=
XM_011535122.1:c.2477A=	XP_011533424.1:p.Asn826=
XM_017020627.1:c.3713A=	XP_016876116.1:p.Asn1238=
XR_941601.1:n.4028A=
XR_941602.1:n.4028A=
XR_941603.1:n.4028A=
XR_941604.1:n.4028A=