Canonical Allele Identifier: CA483894454

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516631T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942495T>C , CM000675.2:g.51942495T>C	GRCh38
NC_000013.10:g.52516631T>C , CM000675.1:g.52516631T>C	GRCh37
NC_000013.9:g.51414632T>C	NCBI36
NG_008806.1:g.74000A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*953A>G	ENSP00000489512.2:n.*953A>G
ENST00000673864.2:c.*2047A>G	ENSP00000501045.2:n.*2047A>G
ENST00000674147.2:c.2682A>G	ENSP00000500964.2:p.Gly894=
ENST00000242839.10:c.3303A>G MANE Select	ENSP00000242839.5:p.Gly1101=
ENST00000344297.9:c.2682A>G	ENSP00000342559.5:p.Gly894=
ENST00000400366.6:c.2970A>G	ENSP00000383217.3:p.Gly990=
ENST00000448424.7:c.3051A>G	ENSP00000416738.3:p.Gly1017=
ENST00000673772.1:c.3069A>G	ENSP00000501168.1:p.Gly1023=
ENST00000673867.1:n.3442A>G
ENST00000674126.1:n.3666A>G
ENST00000674147.1:c.2238A>G	ENSP00000500964.1:p.Gly746=
ENST00000242839.8:c.3303A>G	ENSP00000242839.4:p.Gly1101=
ENST00000344297.8:c.2682A>G	ENSP00000342559.5:p.Gly894=
ENST00000400366.5:c.2970A>G	ENSP00000383217.3:p.Gly990=
ENST00000400370.8:c.2013A>G	ENSP00000383221.3:p.Gly671=
ENST00000418097.7:c.3108A>G	ENSP00000393343.2:p.Gly1036=
ENST00000448424.6:c.3069A>G	ENSP00000416738.2:p.Gly1023=
ENST00000634296.1:c.1081A>G
ENST00000634308.1:c.*404A>G	ENSP00000489234.1:n.*404A>G
ENST00000634620.1:n.4047A>G
ENST00000634810.1:n.2648A>G
ENST00000634844.1:c.3159A>G	ENSP00000489398.1:p.Gly1053=
NM_000053.3:c.3303A>G	NP_000044.2:p.Gly1101=
NM_001005918.2:c.2682A>G	NP_001005918.1:p.Gly894=
NM_001243182.1:c.2970A>G	NP_001230111.1:p.Gly990=
XM_005266423.2:c.3207A>G	XP_005266480.1:p.Gly1069=
XM_005266424.3:c.3207A>G	XP_005266481.1:p.Gly1069=
XM_005266427.2:c.3069A>G	XP_005266484.1:p.Gly1023=
XM_005266428.1:c.3051A>G	XP_005266485.1:p.Gly1017=
XM_005266430.3:c.3303A>G	XP_005266487.1:p.Gly1101=
XM_005266431.2:c.3267A>G	XP_005266488.1:p.Gly1089=
XM_005266432.2:c.2817A>G	XP_005266489.1:p.Gly939=
XM_006719837.2:c.3207A>G	XP_006719900.1:p.Gly1069=
XM_006719838.1:c.1119A>G	XP_006719901.1:p.Gly373=
XM_006719839.1:c.936A>G	XP_006719902.1:p.Gly312=
XM_011535117.1:c.3207A>G	XP_011533419.1:p.Gly1069=
XM_011535118.1:c.3168A>G	XP_011533420.1:p.Gly1056=
XM_011535119.1:c.3120A>G	XP_011533421.1:p.Gly1040=
XM_011535120.1:c.2889A>G	XP_011533422.1:p.Gly963=
XM_011535121.1:c.2790A>G	XP_011533423.1:p.Gly930=
XM_011535122.1:c.1971A>G	XP_011533424.1:p.Gly657=
XR_941601.1:n.3522A>G
XR_941602.1:n.3522A>G
XR_941603.1:n.3522A>G
XR_941604.1:n.3522A>G
NM_001330578.1:c.3069A>G	NP_001317507.1:p.Gly1023=
NM_001330579.1:c.3051A>G	NP_001317508.1:p.Gly1017=
XM_005266424.4:c.3207A>G	XP_005266481.1:p.Gly1069=
XM_005266430.4:c.3303A>G	XP_005266487.1:p.Gly1101=
XM_005266431.4:c.3267A>G	XP_005266488.1:p.Gly1089=
XM_006719837.3:c.3207A>G	XP_006719900.1:p.Gly1069=
XM_011535117.3:c.3207A>G	XP_011533419.1:p.Gly1069=
XM_017020627.1:c.3207A>G	XP_016876116.1:p.Gly1069=
NM_000053.4:c.3303A>G MANE Select	NP_000044.2:p.Gly1101=
NM_001005918.3:c.2682A>G	NP_001005918.1:p.Gly894=
NM_001330579.2:c.3051A>G	NP_001317508.1:p.Gly1017=
NM_001243182.2:c.2970A>G	NP_001230111.1:p.Gly990=
NM_001330578.2:c.3069A>G	NP_001317507.1:p.Gly1023=