Canonical Allele Identifier: CA388026603

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515318T>A (hg19) ; chr13:g.51941182T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941182T>A , CM000675.2:g.51941182T>A	GRCh38
NC_000013.10:g.52515318T>A , CM000675.1:g.52515318T>A	GRCh37
NC_000013.9:g.51413319T>A	NCBI36
NG_008806.1:g.75313A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1105A>T	ENSP00000489512.2:n.*1105A>T
ENST00000673864.2:c.*2199A>T	ENSP00000501045.2:n.*2199A>T
ENST00000674147.2:c.2834A>T	ENSP00000500964.2:p.Glu945Val
ENST00000242839.10:c.3455A>T MANE Select	ENSP00000242839.5:p.Glu1152Val
ENST00000344297.9:c.2834A>T	ENSP00000342559.5:p.Glu945Val
ENST00000400366.6:c.3122A>T	ENSP00000383217.3:p.Glu1041Val
ENST00000448424.7:c.3203A>T	ENSP00000416738.3:p.Glu1068Val
ENST00000673772.1:c.3221A>T	ENSP00000501168.1:p.Glu1074Val
ENST00000673867.1:n.3594A>T
ENST00000674126.1:n.3818A>T
ENST00000674147.1:c.2390A>T	ENSP00000500964.1:p.Glu797Val
ENST00000242839.8:c.3455A>T	ENSP00000242839.4:p.Glu1152Val
ENST00000344297.8:c.2834A>T	ENSP00000342559.5:p.Glu945Val
ENST00000400366.5:c.3122A>T	ENSP00000383217.3:p.Glu1041Val
ENST00000400370.8:c.2165A>T	ENSP00000383221.3:p.Glu722Val
ENST00000418097.7:c.3260A>T	ENSP00000393343.2:p.Glu1087Val
ENST00000448424.6:c.3221A>T	ENSP00000416738.2:p.Glu1074Val
ENST00000634296.1:c.1233A>T
ENST00000634308.1:c.*556A>T	ENSP00000489234.1:n.*556A>T
ENST00000634620.1:n.4199A>T
ENST00000634810.1:n.2800A>T
ENST00000634844.1:c.3311A>T	ENSP00000489398.1:p.Glu1104Val
NM_000053.3:c.3455A>T	NP_000044.2:p.Glu1152Val
NM_001005918.2:c.2834A>T	NP_001005918.1:p.Glu945Val
NM_001243182.1:c.3122A>T	NP_001230111.1:p.Glu1041Val
XM_005266423.2:c.3359A>T	XP_005266480.1:p.Glu1120Val
XM_005266424.3:c.3359A>T	XP_005266481.1:p.Glu1120Val
XM_005266427.2:c.3221A>T	XP_005266484.1:p.Glu1074Val
XM_005266428.1:c.3203A>T	XP_005266485.1:p.Glu1068Val
XM_005266430.3:c.3455A>T	XP_005266487.1:p.Glu1152Val
XM_005266431.2:c.3419A>T	XP_005266488.1:p.Glu1140Val
XM_005266432.2:c.2969A>T	XP_005266489.1:p.Glu990Val
XM_006719837.2:c.3359A>T	XP_006719900.1:p.Glu1120Val
XM_006719838.1:c.1271A>T	XP_006719901.1:p.Glu424Val
XM_006719839.1:c.1088A>T	XP_006719902.1:p.Glu363Val
XM_011535117.1:c.3359A>T	XP_011533419.1:p.Glu1120Val
XM_011535118.1:c.3320A>T	XP_011533420.1:p.Glu1107Val
XM_011535119.1:c.3272A>T	XP_011533421.1:p.Glu1091Val
XM_011535120.1:c.3041A>T	XP_011533422.1:p.Glu1014Val
XM_011535121.1:c.2942A>T	XP_011533423.1:p.Glu981Val
XM_011535122.1:c.2123A>T	XP_011533424.1:p.Glu708Val
XR_941601.1:n.3674A>T
XR_941602.1:n.3674A>T
XR_941603.1:n.3674A>T
XR_941604.1:n.3674A>T
NM_001330578.1:c.3221A>T	NP_001317507.1:p.Glu1074Val
NM_001330579.1:c.3203A>T	NP_001317508.1:p.Glu1068Val
XM_005266424.4:c.3359A>T	XP_005266481.1:p.Glu1120Val
XM_005266430.4:c.3455A>T	XP_005266487.1:p.Glu1152Val
XM_005266431.4:c.3419A>T	XP_005266488.1:p.Glu1140Val
XM_006719837.3:c.3359A>T	XP_006719900.1:p.Glu1120Val
XM_011535117.3:c.3359A>T	XP_011533419.1:p.Glu1120Val
XM_017020627.1:c.3359A>T	XP_016876116.1:p.Glu1120Val
NM_000053.4:c.3455A>T MANE Select	NP_000044.2:p.Glu1152Val
NM_001005918.3:c.2834A>T	NP_001005918.1:p.Glu945Val
NM_001330579.2:c.3203A>T	NP_001317508.1:p.Glu1068Val
NM_001243182.2:c.3122A>T	NP_001230111.1:p.Glu1041Val
NM_001330578.2:c.3221A>T	NP_001317507.1:p.Glu1074Val