Canonical Allele Identifier: CA483892553

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1080468
• ClinVar RCV Id: RCV001396084
• dbSNP Id: rs2138451437
• MyVariant Identifiers: chr13:g.52509731C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935595C>T , CM000675.2:g.51935595C>T	GRCh38
NC_000013.10:g.52509731C>T , CM000675.1:g.52509731C>T	GRCh37
NC_000013.9:g.51407732C>T	NCBI36
NG_008806.1:g.80900G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1772G>A	ENSP00000489512.2:n.*1772G>A
ENST00000673864.2:c.*2866G>A	ENSP00000501045.2:n.*2866G>A
ENST00000674147.2:c.3501G>A	ENSP00000500964.2:p.Lys1167=
ENST00000242839.10:c.4122G>A MANE Select	ENSP00000242839.5:p.Lys1374=
ENST00000344297.9:c.3501G>A	ENSP00000342559.5:p.Lys1167=
ENST00000400366.6:c.3789G>A	ENSP00000383217.3:p.Lys1263=
ENST00000448424.7:c.3870G>A	ENSP00000416738.3:p.Lys1290=
ENST00000673696.1:n.1445G>A
ENST00000673772.1:c.3888G>A	ENSP00000501168.1:p.Lys1296=
ENST00000673867.1:n.4261G>A
ENST00000673923.1:n.988G>A
ENST00000674147.1:c.3057G>A	ENSP00000500964.1:p.Lys1019=
ENST00000242839.8:c.4122G>A	ENSP00000242839.4:p.Lys1374=
ENST00000344297.8:c.3501G>A	ENSP00000342559.5:p.Lys1167=
ENST00000400366.5:c.3789G>A	ENSP00000383217.3:p.Lys1263=
ENST00000400370.8:c.2832G>A	ENSP00000383221.3:p.Lys944=
ENST00000418097.7:c.3927G>A	ENSP00000393343.2:p.Lys1309=
ENST00000448424.6:c.3888G>A	ENSP00000416738.2:p.Lys1296=
ENST00000634296.1:c.1900G>A
ENST00000634308.1:c.*1223G>A	ENSP00000489234.1:n.*1223G>A
ENST00000634620.1:n.4866G>A
ENST00000634810.1:n.3467G>A
ENST00000634844.1:c.3978G>A	ENSP00000489398.1:p.Lys1326=
NM_000053.3:c.4122G>A	NP_000044.2:p.Lys1374=
NM_001005918.2:c.3501G>A	NP_001005918.1:p.Lys1167=
NM_001243182.1:c.3789G>A	NP_001230111.1:p.Lys1263=
XM_005266423.2:c.4026G>A	XP_005266480.1:p.Lys1342=
XM_005266424.3:c.4026G>A	XP_005266481.1:p.Lys1342=
XM_005266427.2:c.3888G>A	XP_005266484.1:p.Lys1296=
XM_005266428.1:c.3870G>A	XP_005266485.1:p.Lys1290=
XM_005266430.3:c.4122G>A	XP_005266487.1:p.Lys1374=
XM_005266431.2:c.4086G>A	XP_005266488.1:p.Lys1362=
XM_005266432.2:c.3636G>A	XP_005266489.1:p.Lys1212=
XM_006719837.2:c.4026G>A	XP_006719900.1:p.Lys1342=
XM_006719838.1:c.1938G>A	XP_006719901.1:p.Lys646=
XM_006719839.1:c.1755G>A	XP_006719902.1:p.Lys585=
XM_011535117.1:c.4026G>A	XP_011533419.1:p.Lys1342=
XM_011535118.1:c.3987G>A	XP_011533420.1:p.Lys1329=
XM_011535119.1:c.3939G>A	XP_011533421.1:p.Lys1313=
XM_011535120.1:c.3708G>A	XP_011533422.1:p.Lys1236=
XM_011535121.1:c.3609G>A	XP_011533423.1:p.Lys1203=
XM_011535122.1:c.2790G>A	XP_011533424.1:p.Lys930=
XR_941601.1:n.4341G>A
XR_941602.1:n.4341G>A
XR_941603.1:n.4341G>A
XR_941604.1:n.4341G>A
NM_001330578.1:c.3888G>A	NP_001317507.1:p.Lys1296=
NM_001330579.1:c.3870G>A	NP_001317508.1:p.Lys1290=
XM_005266424.4:c.4026G>A	XP_005266481.1:p.Lys1342=
XM_005266430.4:c.4122G>A	XP_005266487.1:p.Lys1374=
XM_005266431.4:c.4086G>A	XP_005266488.1:p.Lys1362=
XM_006719837.3:c.4026G>A	XP_006719900.1:p.Lys1342=
XM_011535117.3:c.4026G>A	XP_011533419.1:p.Lys1342=
XM_017020627.1:c.4026G>A	XP_016876116.1:p.Lys1342=
NM_000053.4:c.4122G>A MANE Select	NP_000044.2:p.Lys1374=
NM_001005918.3:c.3501G>A	NP_001005918.1:p.Lys1167=
NM_001330579.2:c.3870G>A	NP_001317508.1:p.Lys1290=
NM_001243182.2:c.3789G>A	NP_001230111.1:p.Lys1263=
NM_001330578.2:c.3888G>A	NP_001317507.1:p.Lys1296=