Canonical Allele Identifier: CA2091566118

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946287G= , CM000675.2:g.51946287G=	GRCh38
NC_000013.10:g.52520423G= , CM000675.1:g.52520423G=	GRCh37
NC_000013.9:g.51418424G=	NCBI36
NG_008806.1:g.70208C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*890C=	ENSP00000489512.2:n.*890C=
ENST00000673864.2:c.*1801C=	ENSP00000501045.2:n.*1801C=
ENST00000674147.2:c.2436C=	ENSP00000500964.2:p.His812=
ENST00000242839.10:c.3057C= MANE Select	ENSP00000242839.5:p.His1019=
ENST00000344297.9:c.2436C=	ENSP00000342559.5:p.His812=
ENST00000400366.6:c.2724C=	ENSP00000383217.3:p.His908=
ENST00000448424.7:c.2805C=	ENSP00000416738.3:p.His935=
ENST00000673772.1:c.2823C=	ENSP00000501168.1:p.His941=
ENST00000673867.1:n.1204C=
ENST00000674126.1:n.3420C=
ENST00000674147.1:c.1992C=	ENSP00000500964.1:p.His664=
ENST00000242839.8:c.3057C=	ENSP00000242839.4:p.His1019=
ENST00000344297.8:c.2436C=	ENSP00000342559.5:p.His812=
ENST00000400366.5:c.2724C=	ENSP00000383217.3:p.His908=
ENST00000400370.8:c.1767C=	ENSP00000383221.3:p.His589=
ENST00000418097.7:c.2866-1996C=	ENSP00000393343.2:n.2866-1996C=
ENST00000448424.6:c.2823C=	ENSP00000416738.2:p.His941=
ENST00000466629.1:n.277C=
ENST00000634296.1:c.1018C=
ENST00000634308.1:c.*158C=	ENSP00000489234.1:n.*158C=
ENST00000634620.1:n.3801C=
ENST00000634810.1:n.2402C=
ENST00000634844.1:c.2913C=	ENSP00000489398.1:p.His971=
ENST00000635406.1:n.403C=
NM_000053.3:c.3057C=	NP_000044.2:p.His1019=
NM_001005918.2:c.2436C=	NP_001005918.1:p.His812=
NM_001243182.1:c.2724C=	NP_001230111.1:p.His908=
XM_005266423.2:c.2961C=	XP_005266480.1:p.His987=
XM_005266424.3:c.2961C=	XP_005266481.1:p.His987=
XM_005266427.2:c.2823C=	XP_005266484.1:p.His941=
XM_005266428.1:c.2805C=	XP_005266485.1:p.His935=
XM_005266430.3:c.3057C=	XP_005266487.1:p.His1019=
XM_005266431.2:c.3021C=	XP_005266488.1:p.His1007=
XM_005266432.2:c.2571C=	XP_005266489.1:p.His857=
XM_006719837.2:c.2961C=	XP_006719900.1:p.His987=
XM_006719838.1:c.873C=	XP_006719901.1:p.His291=
XM_006719839.1:c.873C=	XP_006719902.1:p.His291=
XM_011535117.1:c.2961C=	XP_011533419.1:p.His987=
XM_011535118.1:c.2922C=	XP_011533420.1:p.His974=
XM_011535119.1:c.3057C=	XP_011533421.1:p.His1019=
XM_011535120.1:c.2643C=	XP_011533422.1:p.His881=
XM_011535121.1:c.2730+3720C=	XP_011533423.1:n.2730+3720C=
XM_011535122.1:c.1725C=	XP_011533424.1:p.His575=
XR_941601.1:n.3276C=
XR_941602.1:n.3276C=
XR_941603.1:n.3276C=
XR_941604.1:n.3276C=
NM_001330578.1:c.2823C=	NP_001317507.1:p.His941=
NM_001330579.1:c.2805C=	NP_001317508.1:p.His935=
XM_005266424.4:c.2961C=	XP_005266481.1:p.His987=
XM_005266430.4:c.3057C=	XP_005266487.1:p.His1019=
XM_005266431.4:c.3021C=	XP_005266488.1:p.His1007=
XM_006719837.3:c.2961C=	XP_006719900.1:p.His987=
XM_011535117.3:c.2961C=	XP_011533419.1:p.His987=
XM_017020627.1:c.2961C=	XP_016876116.1:p.His987=
NM_000053.4:c.3057C= MANE Select	NP_000044.2:p.His1019=
NM_001005918.3:c.2436C=	NP_001005918.1:p.His812=
NM_001330579.2:c.2805C=	NP_001317508.1:p.His935=
NM_001243182.2:c.2724C=	NP_001230111.1:p.His908=
NM_001330578.2:c.2823C=	NP_001317507.1:p.His941=