Canonical Allele Identifier: CA2091559586

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941203G= , CM000675.2:g.51941203G=	GRCh38
NC_000013.10:g.52515339G= , CM000675.1:g.52515339G=	GRCh37
NC_000013.9:g.51413340G=	NCBI36
NG_008806.1:g.75292C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1084C=	ENSP00000489512.2:n.*1084C=
ENST00000673864.2:c.*2178C=	ENSP00000501045.2:n.*2178C=
ENST00000674147.2:c.2813C=	ENSP00000500964.2:p.Ser938=
ENST00000242839.10:c.3434C= MANE Select	ENSP00000242839.5:p.Ser1145=
ENST00000344297.9:c.2813C=	ENSP00000342559.5:p.Ser938=
ENST00000400366.6:c.3101C=	ENSP00000383217.3:p.Ser1034=
ENST00000448424.7:c.3182C=	ENSP00000416738.3:p.Ser1061=
ENST00000673772.1:c.3200C=	ENSP00000501168.1:p.Ser1067=
ENST00000673867.1:n.3573C=
ENST00000674126.1:n.3797C=
ENST00000674147.1:c.2369C=	ENSP00000500964.1:p.Ser790=
ENST00000242839.8:c.3434C=	ENSP00000242839.4:p.Ser1145=
ENST00000344297.8:c.2813C=	ENSP00000342559.5:p.Ser938=
ENST00000400366.5:c.3101C=	ENSP00000383217.3:p.Ser1034=
ENST00000400370.8:c.2144C=	ENSP00000383221.3:p.Ser715=
ENST00000418097.7:c.3239C=	ENSP00000393343.2:p.Ser1080=
ENST00000448424.6:c.3200C=	ENSP00000416738.2:p.Ser1067=
ENST00000634296.1:c.1212C=
ENST00000634308.1:c.*535C=	ENSP00000489234.1:n.*535C=
ENST00000634620.1:n.4178C=
ENST00000634810.1:n.2779C=
ENST00000634844.1:c.3290C=	ENSP00000489398.1:p.Ser1097=
NM_000053.3:c.3434C=	NP_000044.2:p.Ser1145=
NM_001005918.2:c.2813C=	NP_001005918.1:p.Ser938=
NM_001243182.1:c.3101C=	NP_001230111.1:p.Ser1034=
XM_005266423.2:c.3338C=	XP_005266480.1:p.Ser1113=
XM_005266424.3:c.3338C=	XP_005266481.1:p.Ser1113=
XM_005266427.2:c.3200C=	XP_005266484.1:p.Ser1067=
XM_005266428.1:c.3182C=	XP_005266485.1:p.Ser1061=
XM_005266430.3:c.3434C=	XP_005266487.1:p.Ser1145=
XM_005266431.2:c.3398C=	XP_005266488.1:p.Ser1133=
XM_005266432.2:c.2948C=	XP_005266489.1:p.Ser983=
XM_006719837.2:c.3338C=	XP_006719900.1:p.Ser1113=
XM_006719838.1:c.1250C=	XP_006719901.1:p.Ser417=
XM_006719839.1:c.1067C=	XP_006719902.1:p.Ser356=
XM_011535117.1:c.3338C=	XP_011533419.1:p.Ser1113=
XM_011535118.1:c.3299C=	XP_011533420.1:p.Ser1100=
XM_011535119.1:c.3251C=	XP_011533421.1:p.Ser1084=
XM_011535120.1:c.3020C=	XP_011533422.1:p.Ser1007=
XM_011535121.1:c.2921C=	XP_011533423.1:p.Ser974=
XM_011535122.1:c.2102C=	XP_011533424.1:p.Ser701=
XR_941601.1:n.3653C=
XR_941602.1:n.3653C=
XR_941603.1:n.3653C=
XR_941604.1:n.3653C=
NM_001330578.1:c.3200C=	NP_001317507.1:p.Ser1067=
NM_001330579.1:c.3182C=	NP_001317508.1:p.Ser1061=
XM_005266424.4:c.3338C=	XP_005266481.1:p.Ser1113=
XM_005266430.4:c.3434C=	XP_005266487.1:p.Ser1145=
XM_005266431.4:c.3398C=	XP_005266488.1:p.Ser1133=
XM_006719837.3:c.3338C=	XP_006719900.1:p.Ser1113=
XM_011535117.3:c.3338C=	XP_011533419.1:p.Ser1113=
XM_017020627.1:c.3338C=	XP_016876116.1:p.Ser1113=
NM_000053.4:c.3434C= MANE Select	NP_000044.2:p.Ser1145=
NM_001005918.3:c.2813C=	NP_001005918.1:p.Ser938=
NM_001330579.2:c.3182C=	NP_001317508.1:p.Ser1061=
NM_001243182.2:c.3101C=	NP_001230111.1:p.Ser1034=
NM_001330578.2:c.3200C=	NP_001317507.1:p.Ser1067=