Canonical Allele Identifier: CA2091553504

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937361G= , CM000675.2:g.51937361G=	GRCh38
NC_000013.10:g.52511497G= , CM000675.1:g.52511497G=	GRCh37
NC_000013.9:g.51409498G=	NCBI36
NG_008806.1:g.79134C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1586C=	ENSP00000489512.2:n.*1586C=
ENST00000673864.2:c.*2680C=	ENSP00000501045.2:n.*2680C=
ENST00000674147.2:c.3315C=	ENSP00000500964.2:p.His1105=
ENST00000242839.10:c.3936C= MANE Select	ENSP00000242839.5:p.His1312=
ENST00000344297.9:c.3315C=	ENSP00000342559.5:p.His1105=
ENST00000400366.6:c.3603C=	ENSP00000383217.3:p.His1201=
ENST00000448424.7:c.3684C=	ENSP00000416738.3:p.His1228=
ENST00000673696.1:n.1259C=
ENST00000673772.1:c.3702C=	ENSP00000501168.1:p.His1234=
ENST00000673867.1:n.4075C=
ENST00000673923.1:n.802C=
ENST00000674147.1:c.2871C=	ENSP00000500964.1:p.His957=
ENST00000242839.8:c.3936C=	ENSP00000242839.4:p.His1312=
ENST00000344297.8:c.3315C=	ENSP00000342559.5:p.His1105=
ENST00000400366.5:c.3603C=	ENSP00000383217.3:p.His1201=
ENST00000400370.8:c.2646C=	ENSP00000383221.3:p.His882=
ENST00000418097.7:c.3741C=	ENSP00000393343.2:p.His1247=
ENST00000448424.6:c.3702C=	ENSP00000416738.2:p.His1234=
ENST00000634296.1:c.1714C=
ENST00000634308.1:c.*1037C=	ENSP00000489234.1:n.*1037C=
ENST00000634620.1:n.4680C=
ENST00000634810.1:n.3281C=
ENST00000634844.1:c.3792C=	ENSP00000489398.1:p.His1264=
NM_000053.3:c.3936C=	NP_000044.2:p.His1312=
NM_001005918.2:c.3315C=	NP_001005918.1:p.His1105=
NM_001243182.1:c.3603C=	NP_001230111.1:p.His1201=
XM_005266423.2:c.3840C=	XP_005266480.1:p.His1280=
XM_005266424.3:c.3840C=	XP_005266481.1:p.His1280=
XM_005266427.2:c.3702C=	XP_005266484.1:p.His1234=
XM_005266428.1:c.3684C=	XP_005266485.1:p.His1228=
XM_005266430.3:c.3936C=	XP_005266487.1:p.His1312=
XM_005266431.2:c.3900C=	XP_005266488.1:p.His1300=
XM_005266432.2:c.3450C=	XP_005266489.1:p.His1150=
XM_006719837.2:c.3840C=	XP_006719900.1:p.His1280=
XM_006719838.1:c.1752C=	XP_006719901.1:p.His584=
XM_006719839.1:c.1569C=	XP_006719902.1:p.His523=
XM_011535117.1:c.3840C=	XP_011533419.1:p.His1280=
XM_011535118.1:c.3801C=	XP_011533420.1:p.His1267=
XM_011535119.1:c.3753C=	XP_011533421.1:p.His1251=
XM_011535120.1:c.3522C=	XP_011533422.1:p.His1174=
XM_011535121.1:c.3423C=	XP_011533423.1:p.His1141=
XM_011535122.1:c.2604C=	XP_011533424.1:p.His868=
XR_941601.1:n.4155C=
XR_941602.1:n.4155C=
XR_941603.1:n.4155C=
XR_941604.1:n.4155C=
NM_001330578.1:c.3702C=	NP_001317507.1:p.His1234=
NM_001330579.1:c.3684C=	NP_001317508.1:p.His1228=
XM_005266424.4:c.3840C=	XP_005266481.1:p.His1280=
XM_005266430.4:c.3936C=	XP_005266487.1:p.His1312=
XM_005266431.4:c.3900C=	XP_005266488.1:p.His1300=
XM_006719837.3:c.3840C=	XP_006719900.1:p.His1280=
XM_011535117.3:c.3840C=	XP_011533419.1:p.His1280=
XM_017020627.1:c.3840C=	XP_016876116.1:p.His1280=
NM_000053.4:c.3936C= MANE Select	NP_000044.2:p.His1312=
NM_001005918.3:c.3315C=	NP_001005918.1:p.His1105=
NM_001330579.2:c.3684C=	NP_001317508.1:p.His1228=
NM_001243182.2:c.3603C=	NP_001230111.1:p.His1201=
NM_001330578.2:c.3702C=	NP_001317507.1:p.His1234=