Canonical Allele Identifier: CA483894508

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516667T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942531T>G , CM000675.2:g.51942531T>G	GRCh38
NC_000013.10:g.52516667T>G , CM000675.1:g.52516667T>G	GRCh37
NC_000013.9:g.51414668T>G	NCBI36
NG_008806.1:g.73964A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*917A>C	ENSP00000489512.2:n.*917A>C
ENST00000673864.2:c.*2011A>C	ENSP00000501045.2:n.*2011A>C
ENST00000674147.2:c.2646A>C	ENSP00000500964.2:p.Gly882=
ENST00000242839.10:c.3267A>C MANE Select	ENSP00000242839.5:p.Gly1089=
ENST00000344297.9:c.2646A>C	ENSP00000342559.5:p.Gly882=
ENST00000400366.6:c.2934A>C	ENSP00000383217.3:p.Gly978=
ENST00000448424.7:c.3015A>C	ENSP00000416738.3:p.Gly1005=
ENST00000673772.1:c.3033A>C	ENSP00000501168.1:p.Gly1011=
ENST00000673867.1:n.3406A>C
ENST00000674126.1:n.3630A>C
ENST00000674147.1:c.2202A>C	ENSP00000500964.1:p.Gly734=
ENST00000242839.8:c.3267A>C	ENSP00000242839.4:p.Gly1089=
ENST00000344297.8:c.2646A>C	ENSP00000342559.5:p.Gly882=
ENST00000400366.5:c.2934A>C	ENSP00000383217.3:p.Gly978=
ENST00000400370.8:c.1977A>C	ENSP00000383221.3:p.Gly659=
ENST00000418097.7:c.3072A>C	ENSP00000393343.2:p.Gly1024=
ENST00000448424.6:c.3033A>C	ENSP00000416738.2:p.Gly1011=
ENST00000634296.1:c.1045A>C
ENST00000634308.1:c.*368A>C	ENSP00000489234.1:n.*368A>C
ENST00000634620.1:n.4011A>C
ENST00000634810.1:n.2612A>C
ENST00000634844.1:c.3123A>C	ENSP00000489398.1:p.Gly1041=
NM_000053.3:c.3267A>C	NP_000044.2:p.Gly1089=
NM_001005918.2:c.2646A>C	NP_001005918.1:p.Gly882=
NM_001243182.1:c.2934A>C	NP_001230111.1:p.Gly978=
XM_005266423.2:c.3171A>C	XP_005266480.1:p.Gly1057=
XM_005266424.3:c.3171A>C	XP_005266481.1:p.Gly1057=
XM_005266427.2:c.3033A>C	XP_005266484.1:p.Gly1011=
XM_005266428.1:c.3015A>C	XP_005266485.1:p.Gly1005=
XM_005266430.3:c.3267A>C	XP_005266487.1:p.Gly1089=
XM_005266431.2:c.3231A>C	XP_005266488.1:p.Gly1077=
XM_005266432.2:c.2781A>C	XP_005266489.1:p.Gly927=
XM_006719837.2:c.3171A>C	XP_006719900.1:p.Gly1057=
XM_006719838.1:c.1083A>C	XP_006719901.1:p.Gly361=
XM_006719839.1:c.900A>C	XP_006719902.1:p.Gly300=
XM_011535117.1:c.3171A>C	XP_011533419.1:p.Gly1057=
XM_011535118.1:c.3132A>C	XP_011533420.1:p.Gly1044=
XM_011535119.1:c.3084A>C	XP_011533421.1:p.Gly1028=
XM_011535120.1:c.2853A>C	XP_011533422.1:p.Gly951=
XM_011535121.1:c.2754A>C	XP_011533423.1:p.Gly918=
XM_011535122.1:c.1935A>C	XP_011533424.1:p.Gly645=
XR_941601.1:n.3486A>C
XR_941602.1:n.3486A>C
XR_941603.1:n.3486A>C
XR_941604.1:n.3486A>C
NM_001330578.1:c.3033A>C	NP_001317507.1:p.Gly1011=
NM_001330579.1:c.3015A>C	NP_001317508.1:p.Gly1005=
XM_005266424.4:c.3171A>C	XP_005266481.1:p.Gly1057=
XM_005266430.4:c.3267A>C	XP_005266487.1:p.Gly1089=
XM_005266431.4:c.3231A>C	XP_005266488.1:p.Gly1077=
XM_006719837.3:c.3171A>C	XP_006719900.1:p.Gly1057=
XM_011535117.3:c.3171A>C	XP_011533419.1:p.Gly1057=
XM_017020627.1:c.3171A>C	XP_016876116.1:p.Gly1057=
NM_000053.4:c.3267A>C MANE Select	NP_000044.2:p.Gly1089=
NM_001005918.3:c.2646A>C	NP_001005918.1:p.Gly882=
NM_001330579.2:c.3015A>C	NP_001317508.1:p.Gly1005=
NM_001243182.2:c.2934A>C	NP_001230111.1:p.Gly978=
NM_001330578.2:c.3033A>C	NP_001317507.1:p.Gly1011=