Canonical Allele Identifier: CA2091566172

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946376C= , CM000675.2:g.51946376C=	GRCh38
NC_000013.10:g.52520512C= , CM000675.1:g.52520512C=	GRCh37
NC_000013.9:g.51418513C=	NCBI36
NG_008806.1:g.70119G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*801G=	ENSP00000489512.2:n.*801G=
ENST00000673864.2:c.*1712G=	ENSP00000501045.2:n.*1712G=
ENST00000674147.2:c.2347G=	ENSP00000500964.2:p.Ala783=
ENST00000242839.10:c.2968G= MANE Select	ENSP00000242839.5:p.Ala990=
ENST00000344297.9:c.2347G=	ENSP00000342559.5:p.Ala783=
ENST00000400366.6:c.2635G=	ENSP00000383217.3:p.Ala879=
ENST00000448424.7:c.2716G=	ENSP00000416738.3:p.Ala906=
ENST00000673772.1:c.2734G=	ENSP00000501168.1:p.Ala912=
ENST00000673867.1:n.1115G=
ENST00000674126.1:n.3331G=
ENST00000674147.1:c.1903G=	ENSP00000500964.1:p.Ala635=
ENST00000242839.8:c.2968G=	ENSP00000242839.4:p.Ala990=
ENST00000344297.8:c.2347G=	ENSP00000342559.5:p.Ala783=
ENST00000400366.5:c.2635G=	ENSP00000383217.3:p.Ala879=
ENST00000400370.8:c.1678G=	ENSP00000383221.3:p.Ala560=
ENST00000418097.7:c.2866-2085G=	ENSP00000393343.2:n.2866-2085G=
ENST00000448424.6:c.2734G=	ENSP00000416738.2:p.Ala912=
ENST00000466629.1:n.188G=
ENST00000634296.1:c.929G=
ENST00000634308.1:c.*69G=	ENSP00000489234.1:n.*69G=
ENST00000634620.1:n.3712G=
ENST00000634810.1:n.2313G=
ENST00000634844.1:c.2824G=	ENSP00000489398.1:p.Ala942=
ENST00000635406.1:n.314G=
NM_000053.3:c.2968G=	NP_000044.2:p.Ala990=
NM_001005918.2:c.2347G=	NP_001005918.1:p.Ala783=
NM_001243182.1:c.2635G=	NP_001230111.1:p.Ala879=
XM_005266423.2:c.2872G=	XP_005266480.1:p.Ala958=
XM_005266424.3:c.2872G=	XP_005266481.1:p.Ala958=
XM_005266427.2:c.2734G=	XP_005266484.1:p.Ala912=
XM_005266428.1:c.2716G=	XP_005266485.1:p.Ala906=
XM_005266430.3:c.2968G=	XP_005266487.1:p.Ala990=
XM_005266431.2:c.2932G=	XP_005266488.1:p.Ala978=
XM_005266432.2:c.2482G=	XP_005266489.1:p.Ala828=
XM_006719837.2:c.2872G=	XP_006719900.1:p.Ala958=
XM_006719838.1:c.784G=	XP_006719901.1:p.Ala262=
XM_006719839.1:c.784G=	XP_006719902.1:p.Ala262=
XM_011535117.1:c.2872G=	XP_011533419.1:p.Ala958=
XM_011535118.1:c.2833G=	XP_011533420.1:p.Ala945=
XM_011535119.1:c.2968G=	XP_011533421.1:p.Ala990=
XM_011535120.1:c.2554G=	XP_011533422.1:p.Ala852=
XM_011535121.1:c.2730+3631G=	XP_011533423.1:n.2730+3631G=
XM_011535122.1:c.1636G=	XP_011533424.1:p.Ala546=
XR_941601.1:n.3187G=
XR_941602.1:n.3187G=
XR_941603.1:n.3187G=
XR_941604.1:n.3187G=
NM_001330578.1:c.2734G=	NP_001317507.1:p.Ala912=
NM_001330579.1:c.2716G=	NP_001317508.1:p.Ala906=
XM_005266424.4:c.2872G=	XP_005266481.1:p.Ala958=
XM_005266430.4:c.2968G=	XP_005266487.1:p.Ala990=
XM_005266431.4:c.2932G=	XP_005266488.1:p.Ala978=
XM_006719837.3:c.2872G=	XP_006719900.1:p.Ala958=
XM_011535117.3:c.2872G=	XP_011533419.1:p.Ala958=
XM_017020627.1:c.2872G=	XP_016876116.1:p.Ala958=
NM_000053.4:c.2968G= MANE Select	NP_000044.2:p.Ala990=
NM_001005918.3:c.2347G=	NP_001005918.1:p.Ala783=
NM_001330579.2:c.2716G=	NP_001317508.1:p.Ala906=
NM_001243182.2:c.2635G=	NP_001230111.1:p.Ala879=
NM_001330578.2:c.2734G=	NP_001317507.1:p.Ala912=