Canonical Allele Identifier: CA2091554051

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937579T= , CM000675.2:g.51937579T=	GRCh38
NC_000013.10:g.52511715T= , CM000675.1:g.52511715T=	GRCh37
NC_000013.9:g.51409716T=	NCBI36
NG_008806.1:g.78916A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1450A=	ENSP00000489512.2:n.*1450A=
ENST00000673864.2:c.*2544A=	ENSP00000501045.2:n.*2544A=
ENST00000674147.2:c.3179A=	ENSP00000500964.2:p.Asp1060=
ENST00000242839.10:c.3800A= MANE Select	ENSP00000242839.5:p.Asp1267=
ENST00000344297.9:c.3179A=	ENSP00000342559.5:p.Asp1060=
ENST00000400366.6:c.3467A=	ENSP00000383217.3:p.Asp1156=
ENST00000448424.7:c.3548A=	ENSP00000416738.3:p.Asp1183=
ENST00000673696.1:n.1041A=
ENST00000673772.1:c.3566A=	ENSP00000501168.1:p.Asp1189=
ENST00000673867.1:n.3939A=
ENST00000673923.1:n.666A=
ENST00000674147.1:c.2735A=	ENSP00000500964.1:p.Asp912=
ENST00000242839.8:c.3800A=	ENSP00000242839.4:p.Asp1267=
ENST00000344297.8:c.3179A=	ENSP00000342559.5:p.Asp1060=
ENST00000400366.5:c.3467A=	ENSP00000383217.3:p.Asp1156=
ENST00000400370.8:c.2510A=	ENSP00000383221.3:p.Asp837=
ENST00000418097.7:c.3605A=	ENSP00000393343.2:p.Asp1202=
ENST00000448424.6:c.3566A=	ENSP00000416738.2:p.Asp1189=
ENST00000634296.1:c.1578A=
ENST00000634308.1:c.*901A=	ENSP00000489234.1:n.*901A=
ENST00000634620.1:n.4544A=
ENST00000634810.1:n.3145A=
ENST00000634844.1:c.3656A=	ENSP00000489398.1:p.Asp1219=
NM_000053.3:c.3800A=	NP_000044.2:p.Asp1267=
NM_001005918.2:c.3179A=	NP_001005918.1:p.Asp1060=
NM_001243182.1:c.3467A=	NP_001230111.1:p.Asp1156=
XM_005266423.2:c.3704A=	XP_005266480.1:p.Asp1235=
XM_005266424.3:c.3704A=	XP_005266481.1:p.Asp1235=
XM_005266427.2:c.3566A=	XP_005266484.1:p.Asp1189=
XM_005266428.1:c.3548A=	XP_005266485.1:p.Asp1183=
XM_005266430.3:c.3800A=	XP_005266487.1:p.Asp1267=
XM_005266431.2:c.3764A=	XP_005266488.1:p.Asp1255=
XM_005266432.2:c.3314A=	XP_005266489.1:p.Asp1105=
XM_006719837.2:c.3704A=	XP_006719900.1:p.Asp1235=
XM_006719838.1:c.1616A=	XP_006719901.1:p.Asp539=
XM_006719839.1:c.1433A=	XP_006719902.1:p.Asp478=
XM_011535117.1:c.3704A=	XP_011533419.1:p.Asp1235=
XM_011535118.1:c.3665A=	XP_011533420.1:p.Asp1222=
XM_011535119.1:c.3617A=	XP_011533421.1:p.Asp1206=
XM_011535120.1:c.3386A=	XP_011533422.1:p.Asp1129=
XM_011535121.1:c.3287A=	XP_011533423.1:p.Asp1096=
XM_011535122.1:c.2468A=	XP_011533424.1:p.Asp823=
XR_941601.1:n.4019A=
XR_941602.1:n.4019A=
XR_941603.1:n.4019A=
XR_941604.1:n.4019A=
NM_001330578.1:c.3566A=	NP_001317507.1:p.Asp1189=
NM_001330579.1:c.3548A=	NP_001317508.1:p.Asp1183=
XM_005266424.4:c.3704A=	XP_005266481.1:p.Asp1235=
XM_005266430.4:c.3800A=	XP_005266487.1:p.Asp1267=
XM_005266431.4:c.3764A=	XP_005266488.1:p.Asp1255=
XM_006719837.3:c.3704A=	XP_006719900.1:p.Asp1235=
XM_011535117.3:c.3704A=	XP_011533419.1:p.Asp1235=
XM_017020627.1:c.3704A=	XP_016876116.1:p.Asp1235=
NM_000053.4:c.3800A= MANE Select	NP_000044.2:p.Asp1267=
NM_001005918.3:c.3179A=	NP_001005918.1:p.Asp1060=
NM_001330579.2:c.3548A=	NP_001317508.1:p.Asp1183=
NM_001243182.2:c.3467A=	NP_001230111.1:p.Asp1156=
NM_001330578.2:c.3566A=	NP_001317507.1:p.Asp1189=