Canonical Allele Identifier: CA388023832

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939088C>T , CM000675.2:g.51939088C>T	GRCh38
NC_000013.10:g.52513224C>T , CM000675.1:g.52513224C>T	GRCh37
NC_000013.9:g.51411225C>T	NCBI36
NG_008806.1:g.77407G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3662G>A MANE Select	NP_000044.2:p.Gly1221Glu
ENST00000242839.10:c.3662G>A MANE Select	ENSP00000242839.5:p.Gly1221Glu
NM_000053.3:c.3662G>A	NP_000044.2:p.Gly1221Glu
NM_001005918.2:c.3041G>A	NP_001005918.1:p.Gly1014Glu
NM_001005918.3:c.3041G>A	NP_001005918.1:p.Gly1014Glu
NM_001243182.1:c.3329G>A	NP_001230111.1:p.Gly1110Glu
NM_001243182.2:c.3329G>A	NP_001230111.1:p.Gly1110Glu
NM_001330578.1:c.3428G>A	NP_001317507.1:p.Gly1143Glu
NM_001330578.2:c.3428G>A	NP_001317507.1:p.Gly1143Glu
NM_001330579.1:c.3410G>A	NP_001317508.1:p.Gly1137Glu
NM_001330579.2:c.3410G>A	NP_001317508.1:p.Gly1137Glu
ENST00000242839.8:c.3662G>A	ENSP00000242839.4:p.Gly1221Glu
ENST00000344297.8:c.3041G>A	ENSP00000342559.5:p.Gly1014Glu
ENST00000344297.9:c.3041G>A	ENSP00000342559.5:p.Gly1014Glu
ENST00000400366.5:c.3329G>A	ENSP00000383217.3:p.Gly1110Glu
ENST00000400366.6:c.3329G>A	ENSP00000383217.3:p.Gly1110Glu
ENST00000400370.8:c.2372G>A	ENSP00000383221.3:p.Gly791Glu
ENST00000418097.7:c.3467G>A	ENSP00000393343.2:p.Gly1156Glu
ENST00000448424.6:c.3428G>A	ENSP00000416738.2:p.Gly1143Glu
ENST00000448424.7:c.3410G>A	ENSP00000416738.3:p.Gly1137Glu
ENST00000634296.1:c.1440G>A
ENST00000634296.2:c.*1312G>A	ENSP00000489512.2:n.*1312G>A
ENST00000634308.1:c.*763G>A	ENSP00000489234.1:n.*763G>A
ENST00000634620.1:n.4406G>A
ENST00000634810.1:n.3007G>A
ENST00000634844.1:c.3518G>A	ENSP00000489398.1:p.Gly1173Glu
ENST00000673696.1:n.903G>A
ENST00000673772.1:c.3428G>A	ENSP00000501168.1:p.Gly1143Glu
ENST00000673864.2:c.*2406G>A	ENSP00000501045.2:n.*2406G>A
ENST00000673867.1:n.3801G>A
ENST00000673923.1:n.528G>A
ENST00000674147.1:c.2597G>A	ENSP00000500964.1:p.Gly866Glu
ENST00000674147.2:c.3041G>A	ENSP00000500964.2:p.Gly1014Glu
XM_005266423.2:c.3566G>A	XP_005266480.1:p.Gly1189Glu
XM_005266424.3:c.3566G>A	XP_005266481.1:p.Gly1189Glu
XM_005266424.4:c.3566G>A	XP_005266481.1:p.Gly1189Glu
XM_005266427.2:c.3428G>A	XP_005266484.1:p.Gly1143Glu
XM_005266428.1:c.3410G>A	XP_005266485.1:p.Gly1137Glu
XM_005266430.3:c.3662G>A	XP_005266487.1:p.Gly1221Glu
XM_005266430.4:c.3662G>A	XP_005266487.1:p.Gly1221Glu
XM_005266431.2:c.3626G>A	XP_005266488.1:p.Gly1209Glu
XM_005266431.4:c.3626G>A	XP_005266488.1:p.Gly1209Glu
XM_005266432.2:c.3176G>A	XP_005266489.1:p.Gly1059Glu
XM_006719837.2:c.3566G>A	XP_006719900.1:p.Gly1189Glu
XM_006719837.3:c.3566G>A	XP_006719900.1:p.Gly1189Glu
XM_006719838.1:c.1478G>A	XP_006719901.1:p.Gly493Glu
XM_006719839.1:c.1295G>A	XP_006719902.1:p.Gly432Glu
XM_011535117.1:c.3566G>A	XP_011533419.1:p.Gly1189Glu
XM_011535117.3:c.3566G>A	XP_011533419.1:p.Gly1189Glu
XM_011535118.1:c.3527G>A	XP_011533420.1:p.Gly1176Glu
XM_011535119.1:c.3479G>A	XP_011533421.1:p.Gly1160Glu
XM_011535120.1:c.3248G>A	XP_011533422.1:p.Gly1083Glu
XM_011535121.1:c.3149G>A	XP_011533423.1:p.Gly1050Glu
XM_011535122.1:c.2330G>A	XP_011533424.1:p.Gly777Glu
XM_017020627.1:c.3566G>A	XP_016876116.1:p.Gly1189Glu
XR_941601.1:n.3881G>A
XR_941602.1:n.3881G>A
XR_941603.1:n.3881G>A
XR_941604.1:n.3881G>A