Canonical Allele Identifier: CA2091566213

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946447A= , CM000675.2:g.51946447A=	GRCh38
NC_000013.10:g.52520583A= , CM000675.1:g.52520583A=	GRCh37
NC_000013.9:g.51418584A=	NCBI36
NG_008806.1:g.70048T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*730T=	ENSP00000489512.2:n.*730T=
ENST00000673864.2:c.*1641T=	ENSP00000501045.2:n.*1641T=
ENST00000674147.2:c.2276T=	ENSP00000500964.2:p.Val759=
ENST00000242839.10:c.2897T= MANE Select	ENSP00000242839.5:p.Val966=
ENST00000344297.9:c.2276T=	ENSP00000342559.5:p.Val759=
ENST00000400366.6:c.2564T=	ENSP00000383217.3:p.Val855=
ENST00000448424.7:c.2645T=	ENSP00000416738.3:p.Val882=
ENST00000673772.1:c.2663T=	ENSP00000501168.1:p.Val888=
ENST00000673867.1:n.1044T=
ENST00000674126.1:n.3260T=
ENST00000674147.1:c.1832T=	ENSP00000500964.1:p.Val611=
ENST00000242839.8:c.2897T=	ENSP00000242839.4:p.Val966=
ENST00000344297.8:c.2276T=	ENSP00000342559.5:p.Val759=
ENST00000400366.5:c.2564T=	ENSP00000383217.3:p.Val855=
ENST00000400370.8:c.1607T=	ENSP00000383221.3:p.Val536=
ENST00000418097.7:c.2866-2156T=	ENSP00000393343.2:n.2866-2156T=
ENST00000448424.6:c.2663T=	ENSP00000416738.2:p.Val888=
ENST00000466629.1:n.117T=
ENST00000634296.1:c.858T=
ENST00000634308.1:c.2683T=	ENSP00000489234.1:p.Ter895=
ENST00000634620.1:n.3641T=
ENST00000634810.1:n.2242T=
ENST00000634844.1:c.2753T=	ENSP00000489398.1:p.Val918=
ENST00000635406.1:n.243T=
NM_000053.3:c.2897T=	NP_000044.2:p.Val966=
NM_001005918.2:c.2276T=	NP_001005918.1:p.Val759=
NM_001243182.1:c.2564T=	NP_001230111.1:p.Val855=
XM_005266423.2:c.2801T=	XP_005266480.1:p.Val934=
XM_005266424.3:c.2801T=	XP_005266481.1:p.Val934=
XM_005266427.2:c.2663T=	XP_005266484.1:p.Val888=
XM_005266428.1:c.2645T=	XP_005266485.1:p.Val882=
XM_005266430.3:c.2897T=	XP_005266487.1:p.Val966=
XM_005266431.2:c.2861T=	XP_005266488.1:p.Val954=
XM_005266432.2:c.2411T=	XP_005266489.1:p.Val804=
XM_006719837.2:c.2801T=	XP_006719900.1:p.Val934=
XM_006719838.1:c.713T=	XP_006719901.1:p.Val238=
XM_006719839.1:c.713T=	XP_006719902.1:p.Val238=
XM_011535117.1:c.2801T=	XP_011533419.1:p.Val934=
XM_011535118.1:c.2762T=	XP_011533420.1:p.Val921=
XM_011535119.1:c.2897T=	XP_011533421.1:p.Val966=
XM_011535120.1:c.2483T=	XP_011533422.1:p.Val828=
XM_011535121.1:c.2730+3560T=	XP_011533423.1:n.2730+3560T=
XM_011535122.1:c.1565T=	XP_011533424.1:p.Val522=
XR_941601.1:n.3116T=
XR_941602.1:n.3116T=
XR_941603.1:n.3116T=
XR_941604.1:n.3116T=
NM_001330578.1:c.2663T=	NP_001317507.1:p.Val888=
NM_001330579.1:c.2645T=	NP_001317508.1:p.Val882=
XM_005266424.4:c.2801T=	XP_005266481.1:p.Val934=
XM_005266430.4:c.2897T=	XP_005266487.1:p.Val966=
XM_005266431.4:c.2861T=	XP_005266488.1:p.Val954=
XM_006719837.3:c.2801T=	XP_006719900.1:p.Val934=
XM_011535117.3:c.2801T=	XP_011533419.1:p.Val934=
XM_017020627.1:c.2801T=	XP_016876116.1:p.Val934=
NM_000053.4:c.2897T= MANE Select	NP_000044.2:p.Val966=
NM_001005918.3:c.2276T=	NP_001005918.1:p.Val759=
NM_001330579.2:c.2645T=	NP_001317508.1:p.Val882=
NM_001243182.2:c.2564T=	NP_001230111.1:p.Val855=
NM_001330578.2:c.2663T=	NP_001317507.1:p.Val888=