Canonical Allele Identifier: CA2091542091

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950157T= , CM000675.2:g.51950157T=	GRCh38
NC_000013.10:g.52524293T= , CM000675.1:g.52524293T=	GRCh37
NC_000013.9:g.51422294T=	NCBI36
NG_008806.1:g.66338A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*413A=	ENSP00000489512.2:n.*413A=
ENST00000673864.2:c.*1324A=	ENSP00000501045.2:n.*1324A=
ENST00000674147.2:c.2094A=	ENSP00000500964.2:p.Glu698=
ENST00000242839.10:c.2580A= MANE Select	ENSP00000242839.5:p.Glu860=
ENST00000344297.9:c.2094A=	ENSP00000342559.5:p.Glu698=
ENST00000400366.6:c.2247A=	ENSP00000383217.3:p.Glu749=
ENST00000448424.7:c.2328A=	ENSP00000416738.3:p.Glu776=
ENST00000673772.1:c.2346A=	ENSP00000501168.1:p.Glu782=
ENST00000674147.1:c.1650A=	ENSP00000500964.1:p.Glu550=
ENST00000242839.8:c.2580A=	ENSP00000242839.4:p.Glu860=
ENST00000344297.8:c.2094A=	ENSP00000342559.5:p.Glu698=
ENST00000400366.5:c.2247A=	ENSP00000383217.3:p.Glu749=
ENST00000400370.8:c.1290A=	ENSP00000383221.3:p.Glu430=
ENST00000418097.7:c.2580A=	ENSP00000393343.2:p.Glu860=
ENST00000448424.6:c.2346A=	ENSP00000416738.2:p.Glu782=
ENST00000634296.1:c.541A=
ENST00000634308.1:c.2346A=	ENSP00000489234.1:p.Glu782=
ENST00000634620.1:n.3378A=
ENST00000634810.1:n.1925A=
ENST00000634844.1:c.2436A=	ENSP00000489398.1:p.Glu812=
ENST00000635406.1:n.212-3679A=
NM_000053.3:c.2580A=	NP_000044.2:p.Glu860=
NM_001005918.2:c.2094A=	NP_001005918.1:p.Glu698=
NM_001243182.1:c.2247A=	NP_001230111.1:p.Glu749=
XM_005266423.2:c.2484A=	XP_005266480.1:p.Glu828=
XM_005266424.3:c.2484A=	XP_005266481.1:p.Glu828=
XM_005266427.2:c.2346A=	XP_005266484.1:p.Glu782=
XM_005266428.1:c.2328A=	XP_005266485.1:p.Glu776=
XM_005266430.3:c.2580A=	XP_005266487.1:p.Glu860=
XM_005266431.2:c.2544A=	XP_005266488.1:p.Glu848=
XM_005266432.2:c.2094A=	XP_005266489.1:p.Glu698=
XM_006719837.2:c.2484A=	XP_006719900.1:p.Glu828=
XM_006719838.1:c.396A=	XP_006719901.1:p.Glu132=
XM_006719839.1:c.396A=	XP_006719902.1:p.Glu132=
XM_011535117.1:c.2484A=	XP_011533419.1:p.Glu828=
XM_011535118.1:c.2580A=	XP_011533420.1:p.Glu860=
XM_011535119.1:c.2580A=	XP_011533421.1:p.Glu860=
XM_011535120.1:c.2166A=	XP_011533422.1:p.Glu722=
XM_011535121.1:c.2580A=	XP_011533423.1:p.Glu860=
XM_011535122.1:c.1248A=	XP_011533424.1:p.Glu416=
XR_941601.1:n.2799A=
XR_941602.1:n.2799A=
XR_941603.1:n.2799A=
XR_941604.1:n.2799A=
NM_001330578.1:c.2346A=	NP_001317507.1:p.Glu782=
NM_001330579.1:c.2328A=	NP_001317508.1:p.Glu776=
XM_005266424.4:c.2484A=	XP_005266481.1:p.Glu828=
XM_005266430.4:c.2580A=	XP_005266487.1:p.Glu860=
XM_005266431.4:c.2544A=	XP_005266488.1:p.Glu848=
XM_006719837.3:c.2484A=	XP_006719900.1:p.Glu828=
XM_011535117.3:c.2484A=	XP_011533419.1:p.Glu828=
XM_017020627.1:c.2484A=	XP_016876116.1:p.Glu828=
NM_000053.4:c.2580A= MANE Select	NP_000044.2:p.Glu860=
NM_001005918.3:c.2094A=	NP_001005918.1:p.Glu698=
NM_001330579.2:c.2328A=	NP_001317508.1:p.Glu776=
NM_001243182.2:c.2247A=	NP_001230111.1:p.Glu749=
NM_001330578.2:c.2346A=	NP_001317507.1:p.Glu782=