Canonical Allele Identifier: CA483894026

Gene: ATP7B

Linked Data

• dbSNP Id: rs1593660666
• MyVariant Identifiers: chr13:g.52515299A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941163A>C , CM000675.2:g.51941163A>C	GRCh38
NC_000013.10:g.52515299A>C , CM000675.1:g.52515299A>C	GRCh37
NC_000013.9:g.51413300A>C	NCBI36
NG_008806.1:g.75332T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1124T>G	ENSP00000489512.2:n.*1124T>G
ENST00000673864.2:c.*2218T>G	ENSP00000501045.2:n.*2218T>G
ENST00000674147.2:c.2853T>G	ENSP00000500964.2:p.Gly951=
ENST00000242839.10:c.3474T>G MANE Select	ENSP00000242839.5:p.Gly1158=
ENST00000344297.9:c.2853T>G	ENSP00000342559.5:p.Gly951=
ENST00000400366.6:c.3141T>G	ENSP00000383217.3:p.Gly1047=
ENST00000448424.7:c.3222T>G	ENSP00000416738.3:p.Gly1074=
ENST00000673772.1:c.3240T>G	ENSP00000501168.1:p.Gly1080=
ENST00000673867.1:n.3613T>G
ENST00000674126.1:n.3837T>G
ENST00000674147.1:c.2409T>G	ENSP00000500964.1:p.Gly803=
ENST00000242839.8:c.3474T>G	ENSP00000242839.4:p.Gly1158=
ENST00000344297.8:c.2853T>G	ENSP00000342559.5:p.Gly951=
ENST00000400366.5:c.3141T>G	ENSP00000383217.3:p.Gly1047=
ENST00000400370.8:c.2184T>G	ENSP00000383221.3:p.Gly728=
ENST00000418097.7:c.3279T>G	ENSP00000393343.2:p.Gly1093=
ENST00000448424.6:c.3240T>G	ENSP00000416738.2:p.Gly1080=
ENST00000634296.1:c.1252T>G
ENST00000634308.1:c.*575T>G	ENSP00000489234.1:n.*575T>G
ENST00000634620.1:n.4218T>G
ENST00000634810.1:n.2819T>G
ENST00000634844.1:c.3330T>G	ENSP00000489398.1:p.Gly1110=
NM_000053.3:c.3474T>G	NP_000044.2:p.Gly1158=
NM_001005918.2:c.2853T>G	NP_001005918.1:p.Gly951=
NM_001243182.1:c.3141T>G	NP_001230111.1:p.Gly1047=
XM_005266423.2:c.3378T>G	XP_005266480.1:p.Gly1126=
XM_005266424.3:c.3378T>G	XP_005266481.1:p.Gly1126=
XM_005266427.2:c.3240T>G	XP_005266484.1:p.Gly1080=
XM_005266428.1:c.3222T>G	XP_005266485.1:p.Gly1074=
XM_005266430.3:c.3474T>G	XP_005266487.1:p.Gly1158=
XM_005266431.2:c.3438T>G	XP_005266488.1:p.Gly1146=
XM_005266432.2:c.2988T>G	XP_005266489.1:p.Gly996=
XM_006719837.2:c.3378T>G	XP_006719900.1:p.Gly1126=
XM_006719838.1:c.1290T>G	XP_006719901.1:p.Gly430=
XM_006719839.1:c.1107T>G	XP_006719902.1:p.Gly369=
XM_011535117.1:c.3378T>G	XP_011533419.1:p.Gly1126=
XM_011535118.1:c.3339T>G	XP_011533420.1:p.Gly1113=
XM_011535119.1:c.3291T>G	XP_011533421.1:p.Gly1097=
XM_011535120.1:c.3060T>G	XP_011533422.1:p.Gly1020=
XM_011535121.1:c.2961T>G	XP_011533423.1:p.Gly987=
XM_011535122.1:c.2142T>G	XP_011533424.1:p.Gly714=
XR_941601.1:n.3693T>G
XR_941602.1:n.3693T>G
XR_941603.1:n.3693T>G
XR_941604.1:n.3693T>G
NM_001330578.1:c.3240T>G	NP_001317507.1:p.Gly1080=
NM_001330579.1:c.3222T>G	NP_001317508.1:p.Gly1074=
XM_005266424.4:c.3378T>G	XP_005266481.1:p.Gly1126=
XM_005266430.4:c.3474T>G	XP_005266487.1:p.Gly1158=
XM_005266431.4:c.3438T>G	XP_005266488.1:p.Gly1146=
XM_006719837.3:c.3378T>G	XP_006719900.1:p.Gly1126=
XM_011535117.3:c.3378T>G	XP_011533419.1:p.Gly1126=
XM_017020627.1:c.3378T>G	XP_016876116.1:p.Gly1126=
NM_000053.4:c.3474T>G MANE Select	NP_000044.2:p.Gly1158=
NM_001005918.3:c.2853T>G	NP_001005918.1:p.Gly951=
NM_001330579.2:c.3222T>G	NP_001317508.1:p.Gly1074=
NM_001243182.2:c.3141T>G	NP_001230111.1:p.Gly1047=
NM_001330578.2:c.3240T>G	NP_001317507.1:p.Gly1080=