Canonical Allele Identifier: CA388023996

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 549999
• ClinVar RCV Id: RCV000664605
• dbSNP Id: rs1555284582
• MyVariant Identifiers: chr13:g.52513248C>A (hg19) ; chr13:g.51939112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939112C>A , CM000675.2:g.51939112C>A	GRCh38
NC_000013.10:g.52513248C>A , CM000675.1:g.52513248C>A	GRCh37
NC_000013.9:g.51411249C>A	NCBI36
NG_008806.1:g.77383G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1288G>T	ENSP00000489512.2:n.*1288G>T
ENST00000673864.2:c.*2382G>T	ENSP00000501045.2:n.*2382G>T
ENST00000674147.2:c.3017G>T	ENSP00000500964.2:p.Gly1006Val
ENST00000242839.10:c.3638G>T MANE Select	ENSP00000242839.5:p.Gly1213Val
ENST00000344297.9:c.3017G>T	ENSP00000342559.5:p.Gly1006Val
ENST00000400366.6:c.3305G>T	ENSP00000383217.3:p.Gly1102Val
ENST00000448424.7:c.3386G>T	ENSP00000416738.3:p.Gly1129Val
ENST00000673696.1:n.879G>T
ENST00000673772.1:c.3404G>T	ENSP00000501168.1:p.Gly1135Val
ENST00000673867.1:n.3777G>T
ENST00000673923.1:n.504G>T
ENST00000674147.1:c.2573G>T	ENSP00000500964.1:p.Gly858Val
ENST00000242839.8:c.3638G>T	ENSP00000242839.4:p.Gly1213Val
ENST00000344297.8:c.3017G>T	ENSP00000342559.5:p.Gly1006Val
ENST00000400366.5:c.3305G>T	ENSP00000383217.3:p.Gly1102Val
ENST00000400370.8:c.2348G>T	ENSP00000383221.3:p.Gly783Val
ENST00000418097.7:c.3443G>T	ENSP00000393343.2:p.Gly1148Val
ENST00000448424.6:c.3404G>T	ENSP00000416738.2:p.Gly1135Val
ENST00000634296.1:c.1416G>T
ENST00000634308.1:c.*739G>T	ENSP00000489234.1:n.*739G>T
ENST00000634620.1:n.4382G>T
ENST00000634810.1:n.2983G>T
ENST00000634844.1:c.3494G>T	ENSP00000489398.1:p.Gly1165Val
NM_000053.3:c.3638G>T	NP_000044.2:p.Gly1213Val
NM_001005918.2:c.3017G>T	NP_001005918.1:p.Gly1006Val
NM_001243182.1:c.3305G>T	NP_001230111.1:p.Gly1102Val
XM_005266423.2:c.3542G>T	XP_005266480.1:p.Gly1181Val
XM_005266424.3:c.3542G>T	XP_005266481.1:p.Gly1181Val
XM_005266427.2:c.3404G>T	XP_005266484.1:p.Gly1135Val
XM_005266428.1:c.3386G>T	XP_005266485.1:p.Gly1129Val
XM_005266430.3:c.3638G>T	XP_005266487.1:p.Gly1213Val
XM_005266431.2:c.3602G>T	XP_005266488.1:p.Gly1201Val
XM_005266432.2:c.3152G>T	XP_005266489.1:p.Gly1051Val
XM_006719837.2:c.3542G>T	XP_006719900.1:p.Gly1181Val
XM_006719838.1:c.1454G>T	XP_006719901.1:p.Gly485Val
XM_006719839.1:c.1271G>T	XP_006719902.1:p.Gly424Val
XM_011535117.1:c.3542G>T	XP_011533419.1:p.Gly1181Val
XM_011535118.1:c.3503G>T	XP_011533420.1:p.Gly1168Val
XM_011535119.1:c.3455G>T	XP_011533421.1:p.Gly1152Val
XM_011535120.1:c.3224G>T	XP_011533422.1:p.Gly1075Val
XM_011535121.1:c.3125G>T	XP_011533423.1:p.Gly1042Val
XM_011535122.1:c.2306G>T	XP_011533424.1:p.Gly769Val
XR_941601.1:n.3857G>T
XR_941602.1:n.3857G>T
XR_941603.1:n.3857G>T
XR_941604.1:n.3857G>T
NM_001330578.1:c.3404G>T	NP_001317507.1:p.Gly1135Val
NM_001330579.1:c.3386G>T	NP_001317508.1:p.Gly1129Val
XM_005266424.4:c.3542G>T	XP_005266481.1:p.Gly1181Val
XM_005266430.4:c.3638G>T	XP_005266487.1:p.Gly1213Val
XM_005266431.4:c.3602G>T	XP_005266488.1:p.Gly1201Val
XM_006719837.3:c.3542G>T	XP_006719900.1:p.Gly1181Val
XM_011535117.3:c.3542G>T	XP_011533419.1:p.Gly1181Val
XM_017020627.1:c.3542G>T	XP_016876116.1:p.Gly1181Val
NM_000053.4:c.3638G>T MANE Select	NP_000044.2:p.Gly1213Val
NM_001005918.3:c.3017G>T	NP_001005918.1:p.Gly1006Val
NM_001330579.2:c.3386G>T	NP_001317508.1:p.Gly1129Val
NM_001243182.2:c.3305G>T	NP_001230111.1:p.Gly1102Val
NM_001330578.2:c.3404G>T	NP_001317507.1:p.Gly1135Val