Canonical Allele Identifier: CA388020155

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 495419
• ClinVar RCV Id: RCV000590198 ; RCV003609157
• dbSNP Id: rs1305262063
• MyVariant Identifiers: chr13:g.52509789C>A (hg19) ; chr13:g.51935653C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935653C>A , CM000675.2:g.51935653C>A	GRCh38
NC_000013.10:g.52509789C>A , CM000675.1:g.52509789C>A	GRCh37
NC_000013.9:g.51407790C>A	NCBI36
NG_008806.1:g.80842G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1714G>T	ENSP00000489512.2:n.*1714G>T
ENST00000673864.2:c.*2808G>T	ENSP00000501045.2:n.*2808G>T
ENST00000674147.2:c.3443G>T	ENSP00000500964.2:p.Gly1148Val
ENST00000242839.10:c.4064G>T MANE Select	ENSP00000242839.5:p.Gly1355Val
ENST00000344297.9:c.3443G>T	ENSP00000342559.5:p.Gly1148Val
ENST00000400366.6:c.3731G>T	ENSP00000383217.3:p.Gly1244Val
ENST00000448424.7:c.3812G>T	ENSP00000416738.3:p.Gly1271Val
ENST00000673696.1:n.1387G>T
ENST00000673772.1:c.3830G>T	ENSP00000501168.1:p.Gly1277Val
ENST00000673867.1:n.4203G>T
ENST00000673923.1:n.930G>T
ENST00000674147.1:c.2999G>T	ENSP00000500964.1:p.Gly1000Val
ENST00000242839.8:c.4064G>T	ENSP00000242839.4:p.Gly1355Val
ENST00000344297.8:c.3443G>T	ENSP00000342559.5:p.Gly1148Val
ENST00000400366.5:c.3731G>T	ENSP00000383217.3:p.Gly1244Val
ENST00000400370.8:c.2774G>T	ENSP00000383221.3:p.Gly925Val
ENST00000418097.7:c.3869G>T	ENSP00000393343.2:p.Gly1290Val
ENST00000448424.6:c.3830G>T	ENSP00000416738.2:p.Gly1277Val
ENST00000634296.1:c.1842G>T
ENST00000634308.1:c.*1165G>T	ENSP00000489234.1:n.*1165G>T
ENST00000634620.1:n.4808G>T
ENST00000634810.1:n.3409G>T
ENST00000634844.1:c.3920G>T	ENSP00000489398.1:p.Gly1307Val
NM_000053.3:c.4064G>T	NP_000044.2:p.Gly1355Val
NM_001005918.2:c.3443G>T	NP_001005918.1:p.Gly1148Val
NM_001243182.1:c.3731G>T	NP_001230111.1:p.Gly1244Val
XM_005266423.2:c.3968G>T	XP_005266480.1:p.Gly1323Val
XM_005266424.3:c.3968G>T	XP_005266481.1:p.Gly1323Val
XM_005266427.2:c.3830G>T	XP_005266484.1:p.Gly1277Val
XM_005266428.1:c.3812G>T	XP_005266485.1:p.Gly1271Val
XM_005266430.3:c.4064G>T	XP_005266487.1:p.Gly1355Val
XM_005266431.2:c.4028G>T	XP_005266488.1:p.Gly1343Val
XM_005266432.2:c.3578G>T	XP_005266489.1:p.Gly1193Val
XM_006719837.2:c.3968G>T	XP_006719900.1:p.Gly1323Val
XM_006719838.1:c.1880G>T	XP_006719901.1:p.Gly627Val
XM_006719839.1:c.1697G>T	XP_006719902.1:p.Gly566Val
XM_011535117.1:c.3968G>T	XP_011533419.1:p.Gly1323Val
XM_011535118.1:c.3929G>T	XP_011533420.1:p.Gly1310Val
XM_011535119.1:c.3881G>T	XP_011533421.1:p.Gly1294Val
XM_011535120.1:c.3650G>T	XP_011533422.1:p.Gly1217Val
XM_011535121.1:c.3551G>T	XP_011533423.1:p.Gly1184Val
XM_011535122.1:c.2732G>T	XP_011533424.1:p.Gly911Val
XR_941601.1:n.4283G>T
XR_941602.1:n.4283G>T
XR_941603.1:n.4283G>T
XR_941604.1:n.4283G>T
NM_001330578.1:c.3830G>T	NP_001317507.1:p.Gly1277Val
NM_001330579.1:c.3812G>T	NP_001317508.1:p.Gly1271Val
XM_005266424.4:c.3968G>T	XP_005266481.1:p.Gly1323Val
XM_005266430.4:c.4064G>T	XP_005266487.1:p.Gly1355Val
XM_005266431.4:c.4028G>T	XP_005266488.1:p.Gly1343Val
XM_006719837.3:c.3968G>T	XP_006719900.1:p.Gly1323Val
XM_011535117.3:c.3968G>T	XP_011533419.1:p.Gly1323Val
XM_017020627.1:c.3968G>T	XP_016876116.1:p.Gly1323Val
NM_000053.4:c.4064G>T MANE Select	NP_000044.2:p.Gly1355Val
NM_001005918.3:c.3443G>T	NP_001005918.1:p.Gly1148Val
NM_001330579.2:c.3812G>T	NP_001317508.1:p.Gly1271Val
NM_001243182.2:c.3731G>T	NP_001230111.1:p.Gly1244Val
NM_001330578.2:c.3830G>T	NP_001317507.1:p.Gly1277Val