Canonical Allele Identifier: CA2091564026

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944223G= , CM000675.2:g.51944223G=	GRCh38
NC_000013.10:g.52518359G= , CM000675.1:g.52518359G=	GRCh37
NC_000013.9:g.51416360G=	NCBI36
NG_008806.1:g.72272C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1669C=	ENSP00000489512.2:n.*894-1669C=
ENST00000673864.2:c.*1873C=	ENSP00000501045.2:n.*1873C=
ENST00000674147.2:c.2508C=	ENSP00000500964.2:p.Leu836=
ENST00000242839.10:c.3129C= MANE Select	ENSP00000242839.5:p.Leu1043=
ENST00000344297.9:c.2508C=	ENSP00000342559.5:p.Leu836=
ENST00000400366.6:c.2796C=	ENSP00000383217.3:p.Leu932=
ENST00000448424.7:c.2877C=	ENSP00000416738.3:p.Leu959=
ENST00000673772.1:c.2895C=	ENSP00000501168.1:p.Leu965=
ENST00000673867.1:n.3268C=
ENST00000674126.1:n.3492C=
ENST00000674147.1:c.2064C=	ENSP00000500964.1:p.Leu688=
ENST00000242839.8:c.3129C=	ENSP00000242839.4:p.Leu1043=
ENST00000344297.8:c.2508C=	ENSP00000342559.5:p.Leu836=
ENST00000400366.5:c.2796C=	ENSP00000383217.3:p.Leu932=
ENST00000400370.8:c.1839C=	ENSP00000383221.3:p.Leu613=
ENST00000418097.7:c.2934C=	ENSP00000393343.2:p.Leu978=
ENST00000448424.6:c.2895C=	ENSP00000416738.2:p.Leu965=
ENST00000466629.1:n.349C=
ENST00000634296.1:c.1022-1669C=
ENST00000634308.1:c.*230C=	ENSP00000489234.1:n.*230C=
ENST00000634620.1:n.3873C=
ENST00000634810.1:n.2474C=
ENST00000634844.1:c.2985C=	ENSP00000489398.1:p.Leu995=
ENST00000635406.1:n.475C=
NM_000053.3:c.3129C=	NP_000044.2:p.Leu1043=
NM_001005918.2:c.2508C=	NP_001005918.1:p.Leu836=
NM_001243182.1:c.2796C=	NP_001230111.1:p.Leu932=
XM_005266423.2:c.3033C=	XP_005266480.1:p.Leu1011=
XM_005266424.3:c.3033C=	XP_005266481.1:p.Leu1011=
XM_005266427.2:c.2895C=	XP_005266484.1:p.Leu965=
XM_005266428.1:c.2877C=	XP_005266485.1:p.Leu959=
XM_005266430.3:c.3129C=	XP_005266487.1:p.Leu1043=
XM_005266431.2:c.3093C=	XP_005266488.1:p.Leu1031=
XM_005266432.2:c.2643C=	XP_005266489.1:p.Leu881=
XM_006719837.2:c.3033C=	XP_006719900.1:p.Leu1011=
XM_006719838.1:c.945C=	XP_006719901.1:p.Leu315=
XM_006719839.1:c.877-1669C=	XP_006719902.1:n.877-1669C=
XM_011535117.1:c.3033C=	XP_011533419.1:p.Leu1011=
XM_011535118.1:c.2994C=	XP_011533420.1:p.Leu998=
XM_011535119.1:c.3061-1669C=	XP_011533421.1:n.3061-1669C=
XM_011535120.1:c.2715C=	XP_011533422.1:p.Leu905=
XM_011535121.1:c.2731-1669C=	XP_011533423.1:n.2731-1669C=
XM_011535122.1:c.1797C=	XP_011533424.1:p.Leu599=
XR_941601.1:n.3348C=
XR_941602.1:n.3348C=
XR_941603.1:n.3348C=
XR_941604.1:n.3348C=
NM_001330578.1:c.2895C=	NP_001317507.1:p.Leu965=
NM_001330579.1:c.2877C=	NP_001317508.1:p.Leu959=
XM_005266424.4:c.3033C=	XP_005266481.1:p.Leu1011=
XM_005266430.4:c.3129C=	XP_005266487.1:p.Leu1043=
XM_005266431.4:c.3093C=	XP_005266488.1:p.Leu1031=
XM_006719837.3:c.3033C=	XP_006719900.1:p.Leu1011=
XM_011535117.3:c.3033C=	XP_011533419.1:p.Leu1011=
XM_017020627.1:c.3033C=	XP_016876116.1:p.Leu1011=
NM_000053.4:c.3129C= MANE Select	NP_000044.2:p.Leu1043=
NM_001005918.3:c.2508C=	NP_001005918.1:p.Leu836=
NM_001330579.2:c.2877C=	NP_001317508.1:p.Leu959=
NM_001243182.2:c.2796C=	NP_001230111.1:p.Leu932=
NM_001330578.2:c.2895C=	NP_001317507.1:p.Leu965=