Canonical Allele Identifier: CA2091559445

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941136G= , CM000675.2:g.51941136G=	GRCh38
NC_000013.10:g.52515272G= , CM000675.1:g.52515272G=	GRCh37
NC_000013.9:g.51413273G=	NCBI36
NG_008806.1:g.75359C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1151C=	ENSP00000489512.2:n.*1151C=
ENST00000673864.2:c.*2245C=	ENSP00000501045.2:n.*2245C=
ENST00000674147.2:c.2880C=	ENSP00000500964.2:p.Asp960=
ENST00000242839.10:c.3501C= MANE Select	ENSP00000242839.5:p.Asp1167=
ENST00000344297.9:c.2880C=	ENSP00000342559.5:p.Asp960=
ENST00000400366.6:c.3168C=	ENSP00000383217.3:p.Asp1056=
ENST00000448424.7:c.3249C=	ENSP00000416738.3:p.Asp1083=
ENST00000673772.1:c.3267C=	ENSP00000501168.1:p.Asp1089=
ENST00000673867.1:n.3640C=
ENST00000674126.1:n.3864C=
ENST00000674147.1:c.2436C=	ENSP00000500964.1:p.Asp812=
ENST00000242839.8:c.3501C=	ENSP00000242839.4:p.Asp1167=
ENST00000344297.8:c.2880C=	ENSP00000342559.5:p.Asp960=
ENST00000400366.5:c.3168C=	ENSP00000383217.3:p.Asp1056=
ENST00000400370.8:c.2211C=	ENSP00000383221.3:p.Asp737=
ENST00000418097.7:c.3306C=	ENSP00000393343.2:p.Asp1102=
ENST00000448424.6:c.3267C=	ENSP00000416738.2:p.Asp1089=
ENST00000634296.1:c.1279C=
ENST00000634308.1:c.*602C=	ENSP00000489234.1:n.*602C=
ENST00000634620.1:n.4245C=
ENST00000634810.1:n.2846C=
ENST00000634844.1:c.3357C=	ENSP00000489398.1:p.Asp1119=
NM_000053.3:c.3501C=	NP_000044.2:p.Asp1167=
NM_001005918.2:c.2880C=	NP_001005918.1:p.Asp960=
NM_001243182.1:c.3168C=	NP_001230111.1:p.Asp1056=
XM_005266423.2:c.3405C=	XP_005266480.1:p.Asp1135=
XM_005266424.3:c.3405C=	XP_005266481.1:p.Asp1135=
XM_005266427.2:c.3267C=	XP_005266484.1:p.Asp1089=
XM_005266428.1:c.3249C=	XP_005266485.1:p.Asp1083=
XM_005266430.3:c.3501C=	XP_005266487.1:p.Asp1167=
XM_005266431.2:c.3465C=	XP_005266488.1:p.Asp1155=
XM_005266432.2:c.3015C=	XP_005266489.1:p.Asp1005=
XM_006719837.2:c.3405C=	XP_006719900.1:p.Asp1135=
XM_006719838.1:c.1317C=	XP_006719901.1:p.Asp439=
XM_006719839.1:c.1134C=	XP_006719902.1:p.Asp378=
XM_011535117.1:c.3405C=	XP_011533419.1:p.Asp1135=
XM_011535118.1:c.3366C=	XP_011533420.1:p.Asp1122=
XM_011535119.1:c.3318C=	XP_011533421.1:p.Asp1106=
XM_011535120.1:c.3087C=	XP_011533422.1:p.Asp1029=
XM_011535121.1:c.2988C=	XP_011533423.1:p.Asp996=
XM_011535122.1:c.2169C=	XP_011533424.1:p.Asp723=
XR_941601.1:n.3720C=
XR_941602.1:n.3720C=
XR_941603.1:n.3720C=
XR_941604.1:n.3720C=
NM_001330578.1:c.3267C=	NP_001317507.1:p.Asp1089=
NM_001330579.1:c.3249C=	NP_001317508.1:p.Asp1083=
XM_005266424.4:c.3405C=	XP_005266481.1:p.Asp1135=
XM_005266430.4:c.3501C=	XP_005266487.1:p.Asp1167=
XM_005266431.4:c.3465C=	XP_005266488.1:p.Asp1155=
XM_006719837.3:c.3405C=	XP_006719900.1:p.Asp1135=
XM_011535117.3:c.3405C=	XP_011533419.1:p.Asp1135=
XM_017020627.1:c.3405C=	XP_016876116.1:p.Asp1135=
NM_000053.4:c.3501C= MANE Select	NP_000044.2:p.Asp1167=
NM_001005918.3:c.2880C=	NP_001005918.1:p.Asp960=
NM_001330579.2:c.3249C=	NP_001317508.1:p.Asp1083=
NM_001243182.2:c.3168C=	NP_001230111.1:p.Asp1056=
NM_001330578.2:c.3267C=	NP_001317507.1:p.Asp1089=