Canonical Allele Identifier: CA2091564236

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944276A= , CM000675.2:g.51944276A=	GRCh38
NC_000013.10:g.52518412A= , CM000675.1:g.52518412A=	GRCh37
NC_000013.9:g.51416413A=	NCBI36
NG_008806.1:g.72219T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1722T=	ENSP00000489512.2:n.*894-1722T=
ENST00000673864.2:c.*1820T=	ENSP00000501045.2:n.*1820T=
ENST00000674147.2:c.2455T=	ENSP00000500964.2:p.Phe819=
ENST00000242839.10:c.3076T= MANE Select	ENSP00000242839.5:p.Phe1026=
ENST00000344297.9:c.2455T=	ENSP00000342559.5:p.Phe819=
ENST00000400366.6:c.2743T=	ENSP00000383217.3:p.Phe915=
ENST00000448424.7:c.2824T=	ENSP00000416738.3:p.Phe942=
ENST00000673772.1:c.2842T=	ENSP00000501168.1:p.Phe948=
ENST00000673867.1:n.3215T=
ENST00000674126.1:n.3439T=
ENST00000674147.1:c.2011T=	ENSP00000500964.1:p.Phe671=
ENST00000242839.8:c.3076T=	ENSP00000242839.4:p.Phe1026=
ENST00000344297.8:c.2455T=	ENSP00000342559.5:p.Phe819=
ENST00000400366.5:c.2743T=	ENSP00000383217.3:p.Phe915=
ENST00000400370.8:c.1786T=	ENSP00000383221.3:p.Phe596=
ENST00000418097.7:c.2881T=	ENSP00000393343.2:p.Phe961=
ENST00000448424.6:c.2842T=	ENSP00000416738.2:p.Phe948=
ENST00000466629.1:n.296T=
ENST00000634296.1:c.1022-1722T=
ENST00000634308.1:c.*177T=	ENSP00000489234.1:n.*177T=
ENST00000634620.1:n.3820T=
ENST00000634810.1:n.2421T=
ENST00000634844.1:c.2932T=	ENSP00000489398.1:p.Phe978=
ENST00000635406.1:n.422T=
NM_000053.3:c.3076T=	NP_000044.2:p.Phe1026=
NM_001005918.2:c.2455T=	NP_001005918.1:p.Phe819=
NM_001243182.1:c.2743T=	NP_001230111.1:p.Phe915=
XM_005266423.2:c.2980T=	XP_005266480.1:p.Phe994=
XM_005266424.3:c.2980T=	XP_005266481.1:p.Phe994=
XM_005266427.2:c.2842T=	XP_005266484.1:p.Phe948=
XM_005266428.1:c.2824T=	XP_005266485.1:p.Phe942=
XM_005266430.3:c.3076T=	XP_005266487.1:p.Phe1026=
XM_005266431.2:c.3040T=	XP_005266488.1:p.Phe1014=
XM_005266432.2:c.2590T=	XP_005266489.1:p.Phe864=
XM_006719837.2:c.2980T=	XP_006719900.1:p.Phe994=
XM_006719838.1:c.892T=	XP_006719901.1:p.Phe298=
XM_006719839.1:c.877-1722T=	XP_006719902.1:n.877-1722T=
XM_011535117.1:c.2980T=	XP_011533419.1:p.Phe994=
XM_011535118.1:c.2941T=	XP_011533420.1:p.Phe981=
XM_011535119.1:c.3061-1722T=	XP_011533421.1:n.3061-1722T=
XM_011535120.1:c.2662T=	XP_011533422.1:p.Phe888=
XM_011535121.1:c.2731-1722T=	XP_011533423.1:n.2731-1722T=
XM_011535122.1:c.1744T=	XP_011533424.1:p.Phe582=
XR_941601.1:n.3295T=
XR_941602.1:n.3295T=
XR_941603.1:n.3295T=
XR_941604.1:n.3295T=
NM_001330578.1:c.2842T=	NP_001317507.1:p.Phe948=
NM_001330579.1:c.2824T=	NP_001317508.1:p.Phe942=
XM_005266424.4:c.2980T=	XP_005266481.1:p.Phe994=
XM_005266430.4:c.3076T=	XP_005266487.1:p.Phe1026=
XM_005266431.4:c.3040T=	XP_005266488.1:p.Phe1014=
XM_006719837.3:c.2980T=	XP_006719900.1:p.Phe994=
XM_011535117.3:c.2980T=	XP_011533419.1:p.Phe994=
XM_017020627.1:c.2980T=	XP_016876116.1:p.Phe994=
NM_000053.4:c.3076T= MANE Select	NP_000044.2:p.Phe1026=
NM_001005918.3:c.2455T=	NP_001005918.1:p.Phe819=
NM_001330579.2:c.2824T=	NP_001317508.1:p.Phe942=
NM_001243182.2:c.2743T=	NP_001230111.1:p.Phe915=
NM_001330578.2:c.2842T=	NP_001317507.1:p.Phe948=