Canonical Allele Identifier: CA2091559403

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941121G= , CM000675.2:g.51941121G=	GRCh38
NC_000013.10:g.52515257G= , CM000675.1:g.52515257G=	GRCh37
NC_000013.9:g.51413258G=	NCBI36
NG_008806.1:g.75374C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1166C=	ENSP00000489512.2:n.*1166C=
ENST00000673864.2:c.*2260C=	ENSP00000501045.2:n.*2260C=
ENST00000674147.2:c.2895C=	ENSP00000500964.2:p.His965=
ENST00000242839.10:c.3516C= MANE Select	ENSP00000242839.5:p.His1172=
ENST00000344297.9:c.2895C=	ENSP00000342559.5:p.His965=
ENST00000400366.6:c.3183C=	ENSP00000383217.3:p.His1061=
ENST00000448424.7:c.3264C=	ENSP00000416738.3:p.His1088=
ENST00000673772.1:c.3282C=	ENSP00000501168.1:p.His1094=
ENST00000673867.1:n.3655C=
ENST00000674126.1:n.3879C=
ENST00000674147.1:c.2451C=	ENSP00000500964.1:p.His817=
ENST00000242839.8:c.3516C=	ENSP00000242839.4:p.His1172=
ENST00000344297.8:c.2895C=	ENSP00000342559.5:p.His965=
ENST00000400366.5:c.3183C=	ENSP00000383217.3:p.His1061=
ENST00000400370.8:c.2226C=	ENSP00000383221.3:p.His742=
ENST00000418097.7:c.3321C=	ENSP00000393343.2:p.His1107=
ENST00000448424.6:c.3282C=	ENSP00000416738.2:p.His1094=
ENST00000634296.1:c.1294C=
ENST00000634308.1:c.*617C=	ENSP00000489234.1:n.*617C=
ENST00000634620.1:n.4260C=
ENST00000634810.1:n.2861C=
ENST00000634844.1:c.3372C=	ENSP00000489398.1:p.His1124=
NM_000053.3:c.3516C=	NP_000044.2:p.His1172=
NM_001005918.2:c.2895C=	NP_001005918.1:p.His965=
NM_001243182.1:c.3183C=	NP_001230111.1:p.His1061=
XM_005266423.2:c.3420C=	XP_005266480.1:p.His1140=
XM_005266424.3:c.3420C=	XP_005266481.1:p.His1140=
XM_005266427.2:c.3282C=	XP_005266484.1:p.His1094=
XM_005266428.1:c.3264C=	XP_005266485.1:p.His1088=
XM_005266430.3:c.3516C=	XP_005266487.1:p.His1172=
XM_005266431.2:c.3480C=	XP_005266488.1:p.His1160=
XM_005266432.2:c.3030C=	XP_005266489.1:p.His1010=
XM_006719837.2:c.3420C=	XP_006719900.1:p.His1140=
XM_006719838.1:c.1332C=	XP_006719901.1:p.His444=
XM_006719839.1:c.1149C=	XP_006719902.1:p.His383=
XM_011535117.1:c.3420C=	XP_011533419.1:p.His1140=
XM_011535118.1:c.3381C=	XP_011533420.1:p.His1127=
XM_011535119.1:c.3333C=	XP_011533421.1:p.His1111=
XM_011535120.1:c.3102C=	XP_011533422.1:p.His1034=
XM_011535121.1:c.3003C=	XP_011533423.1:p.His1001=
XM_011535122.1:c.2184C=	XP_011533424.1:p.His728=
XR_941601.1:n.3735C=
XR_941602.1:n.3735C=
XR_941603.1:n.3735C=
XR_941604.1:n.3735C=
NM_001330578.1:c.3282C=	NP_001317507.1:p.His1094=
NM_001330579.1:c.3264C=	NP_001317508.1:p.His1088=
XM_005266424.4:c.3420C=	XP_005266481.1:p.His1140=
XM_005266430.4:c.3516C=	XP_005266487.1:p.His1172=
XM_005266431.4:c.3480C=	XP_005266488.1:p.His1160=
XM_006719837.3:c.3420C=	XP_006719900.1:p.His1140=
XM_011535117.3:c.3420C=	XP_011533419.1:p.His1140=
XM_017020627.1:c.3420C=	XP_016876116.1:p.His1140=
NM_000053.4:c.3516C= MANE Select	NP_000044.2:p.His1172=
NM_001005918.3:c.2895C=	NP_001005918.1:p.His965=
NM_001330579.2:c.3264C=	NP_001317508.1:p.His1088=
NM_001243182.2:c.3183C=	NP_001230111.1:p.His1061=
NM_001330578.2:c.3282C=	NP_001317507.1:p.His1094=