Canonical Allele Identifier: CA388028869

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 554311
• ClinVar RCV Id: RCV000669922
• dbSNP Id: rs1555285911
• MyVariant Identifiers: chr13:g.52516668C>T (hg19) ; chr13:g.51942532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942532C>T , CM000675.2:g.51942532C>T	GRCh38
NC_000013.10:g.52516668C>T , CM000675.1:g.52516668C>T	GRCh37
NC_000013.9:g.51414669C>T	NCBI36
NG_008806.1:g.73963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*916G>A	ENSP00000489512.2:n.*916G>A
ENST00000673864.2:c.*2010G>A	ENSP00000501045.2:n.*2010G>A
ENST00000674147.2:c.2645G>A	ENSP00000500964.2:p.Gly882Glu
ENST00000242839.10:c.3266G>A MANE Select	ENSP00000242839.5:p.Gly1089Glu
ENST00000344297.9:c.2645G>A	ENSP00000342559.5:p.Gly882Glu
ENST00000400366.6:c.2933G>A	ENSP00000383217.3:p.Gly978Glu
ENST00000448424.7:c.3014G>A	ENSP00000416738.3:p.Gly1005Glu
ENST00000673772.1:c.3032G>A	ENSP00000501168.1:p.Gly1011Glu
ENST00000673867.1:n.3405G>A
ENST00000674126.1:n.3629G>A
ENST00000674147.1:c.2201G>A	ENSP00000500964.1:p.Gly734Glu
ENST00000242839.8:c.3266G>A	ENSP00000242839.4:p.Gly1089Glu
ENST00000344297.8:c.2645G>A	ENSP00000342559.5:p.Gly882Glu
ENST00000400366.5:c.2933G>A	ENSP00000383217.3:p.Gly978Glu
ENST00000400370.8:c.1976G>A	ENSP00000383221.3:p.Gly659Glu
ENST00000418097.7:c.3071G>A	ENSP00000393343.2:p.Gly1024Glu
ENST00000448424.6:c.3032G>A	ENSP00000416738.2:p.Gly1011Glu
ENST00000634296.1:c.1044G>A
ENST00000634308.1:c.*367G>A	ENSP00000489234.1:n.*367G>A
ENST00000634620.1:n.4010G>A
ENST00000634810.1:n.2611G>A
ENST00000634844.1:c.3122G>A	ENSP00000489398.1:p.Gly1041Glu
NM_000053.3:c.3266G>A	NP_000044.2:p.Gly1089Glu
NM_001005918.2:c.2645G>A	NP_001005918.1:p.Gly882Glu
NM_001243182.1:c.2933G>A	NP_001230111.1:p.Gly978Glu
XM_005266423.2:c.3170G>A	XP_005266480.1:p.Gly1057Glu
XM_005266424.3:c.3170G>A	XP_005266481.1:p.Gly1057Glu
XM_005266427.2:c.3032G>A	XP_005266484.1:p.Gly1011Glu
XM_005266428.1:c.3014G>A	XP_005266485.1:p.Gly1005Glu
XM_005266430.3:c.3266G>A	XP_005266487.1:p.Gly1089Glu
XM_005266431.2:c.3230G>A	XP_005266488.1:p.Gly1077Glu
XM_005266432.2:c.2780G>A	XP_005266489.1:p.Gly927Glu
XM_006719837.2:c.3170G>A	XP_006719900.1:p.Gly1057Glu
XM_006719838.1:c.1082G>A	XP_006719901.1:p.Gly361Glu
XM_006719839.1:c.899G>A	XP_006719902.1:p.Gly300Glu
XM_011535117.1:c.3170G>A	XP_011533419.1:p.Gly1057Glu
XM_011535118.1:c.3131G>A	XP_011533420.1:p.Gly1044Glu
XM_011535119.1:c.3083G>A	XP_011533421.1:p.Gly1028Glu
XM_011535120.1:c.2852G>A	XP_011533422.1:p.Gly951Glu
XM_011535121.1:c.2753G>A	XP_011533423.1:p.Gly918Glu
XM_011535122.1:c.1934G>A	XP_011533424.1:p.Gly645Glu
XR_941601.1:n.3485G>A
XR_941602.1:n.3485G>A
XR_941603.1:n.3485G>A
XR_941604.1:n.3485G>A
NM_001330578.1:c.3032G>A	NP_001317507.1:p.Gly1011Glu
NM_001330579.1:c.3014G>A	NP_001317508.1:p.Gly1005Glu
XM_005266424.4:c.3170G>A	XP_005266481.1:p.Gly1057Glu
XM_005266430.4:c.3266G>A	XP_005266487.1:p.Gly1089Glu
XM_005266431.4:c.3230G>A	XP_005266488.1:p.Gly1077Glu
XM_006719837.3:c.3170G>A	XP_006719900.1:p.Gly1057Glu
XM_011535117.3:c.3170G>A	XP_011533419.1:p.Gly1057Glu
XM_017020627.1:c.3170G>A	XP_016876116.1:p.Gly1057Glu
NM_000053.4:c.3266G>A MANE Select	NP_000044.2:p.Gly1089Glu
NM_001005918.3:c.2645G>A	NP_001005918.1:p.Gly882Glu
NM_001330579.2:c.3014G>A	NP_001317508.1:p.Gly1005Glu
NM_001243182.2:c.2933G>A	NP_001230111.1:p.Gly978Glu
NM_001330578.2:c.3032G>A	NP_001317507.1:p.Gly1011Glu