Canonical Allele Identifier: CA483893698

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513223C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939087C>G , CM000675.2:g.51939087C>G	GRCh38
NC_000013.10:g.52513223C>G , CM000675.1:g.52513223C>G	GRCh37
NC_000013.9:g.51411224C>G	NCBI36
NG_008806.1:g.77408G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1313G>C	ENSP00000489512.2:n.*1313G>C
ENST00000673864.2:c.*2407G>C	ENSP00000501045.2:n.*2407G>C
ENST00000674147.2:c.3042G>C	ENSP00000500964.2:p.Gly1014=
ENST00000242839.10:c.3663G>C MANE Select	ENSP00000242839.5:p.Gly1221=
ENST00000344297.9:c.3042G>C	ENSP00000342559.5:p.Gly1014=
ENST00000400366.6:c.3330G>C	ENSP00000383217.3:p.Gly1110=
ENST00000448424.7:c.3411G>C	ENSP00000416738.3:p.Gly1137=
ENST00000673696.1:n.904G>C
ENST00000673772.1:c.3429G>C	ENSP00000501168.1:p.Gly1143=
ENST00000673867.1:n.3802G>C
ENST00000673923.1:n.529G>C
ENST00000674147.1:c.2598G>C	ENSP00000500964.1:p.Gly866=
ENST00000242839.8:c.3663G>C	ENSP00000242839.4:p.Gly1221=
ENST00000344297.8:c.3042G>C	ENSP00000342559.5:p.Gly1014=
ENST00000400366.5:c.3330G>C	ENSP00000383217.3:p.Gly1110=
ENST00000400370.8:c.2373G>C	ENSP00000383221.3:p.Gly791=
ENST00000418097.7:c.3468G>C	ENSP00000393343.2:p.Gly1156=
ENST00000448424.6:c.3429G>C	ENSP00000416738.2:p.Gly1143=
ENST00000634296.1:c.1441G>C
ENST00000634308.1:c.*764G>C	ENSP00000489234.1:n.*764G>C
ENST00000634620.1:n.4407G>C
ENST00000634810.1:n.3008G>C
ENST00000634844.1:c.3519G>C	ENSP00000489398.1:p.Gly1173=
NM_000053.3:c.3663G>C	NP_000044.2:p.Gly1221=
NM_001005918.2:c.3042G>C	NP_001005918.1:p.Gly1014=
NM_001243182.1:c.3330G>C	NP_001230111.1:p.Gly1110=
XM_005266423.2:c.3567G>C	XP_005266480.1:p.Gly1189=
XM_005266424.3:c.3567G>C	XP_005266481.1:p.Gly1189=
XM_005266427.2:c.3429G>C	XP_005266484.1:p.Gly1143=
XM_005266428.1:c.3411G>C	XP_005266485.1:p.Gly1137=
XM_005266430.3:c.3663G>C	XP_005266487.1:p.Gly1221=
XM_005266431.2:c.3627G>C	XP_005266488.1:p.Gly1209=
XM_005266432.2:c.3177G>C	XP_005266489.1:p.Gly1059=
XM_006719837.2:c.3567G>C	XP_006719900.1:p.Gly1189=
XM_006719838.1:c.1479G>C	XP_006719901.1:p.Gly493=
XM_006719839.1:c.1296G>C	XP_006719902.1:p.Gly432=
XM_011535117.1:c.3567G>C	XP_011533419.1:p.Gly1189=
XM_011535118.1:c.3528G>C	XP_011533420.1:p.Gly1176=
XM_011535119.1:c.3480G>C	XP_011533421.1:p.Gly1160=
XM_011535120.1:c.3249G>C	XP_011533422.1:p.Gly1083=
XM_011535121.1:c.3150G>C	XP_011533423.1:p.Gly1050=
XM_011535122.1:c.2331G>C	XP_011533424.1:p.Gly777=
XR_941601.1:n.3882G>C
XR_941602.1:n.3882G>C
XR_941603.1:n.3882G>C
XR_941604.1:n.3882G>C
NM_001330578.1:c.3429G>C	NP_001317507.1:p.Gly1143=
NM_001330579.1:c.3411G>C	NP_001317508.1:p.Gly1137=
XM_005266424.4:c.3567G>C	XP_005266481.1:p.Gly1189=
XM_005266430.4:c.3663G>C	XP_005266487.1:p.Gly1221=
XM_005266431.4:c.3627G>C	XP_005266488.1:p.Gly1209=
XM_006719837.3:c.3567G>C	XP_006719900.1:p.Gly1189=
XM_011535117.3:c.3567G>C	XP_011533419.1:p.Gly1189=
XM_017020627.1:c.3567G>C	XP_016876116.1:p.Gly1189=
NM_000053.4:c.3663G>C MANE Select	NP_000044.2:p.Gly1221=
NM_001005918.3:c.3042G>C	NP_001005918.1:p.Gly1014=
NM_001330579.2:c.3411G>C	NP_001317508.1:p.Gly1137=
NM_001243182.2:c.3330G>C	NP_001230111.1:p.Gly1110=
NM_001330578.2:c.3429G>C	NP_001317507.1:p.Gly1143=