Canonical Allele Identifier: CA483896212

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2418837
• ClinVar RCV Id: RCV003112081
• gnomAD v4: 13-51958527-G-A
• MyVariant Identifiers: chr13:g.52532663G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958527G>A , CM000675.2:g.51958527G>A	GRCh38
NC_000013.10:g.52532663G>A , CM000675.1:g.52532663G>A	GRCh37
NC_000013.9:g.51430664G>A	NCBI36
NG_008806.1:g.57968C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1964C>T	ENSP00000489512.2:p.Thr655Ile
ENST00000673864.2:c.*883C>T	ENSP00000501045.2:n.*883C>T
ENST00000674147.2:c.1870-920C>T	ENSP00000500964.2:n.1870-920C>T
ENST00000242839.10:c.2139C>T MANE Select	ENSP00000242839.5:p.Tyr713=
ENST00000344297.9:c.1870-920C>T	ENSP00000342559.5:n.1870-920C>T
ENST00000400366.6:c.1806C>T	ENSP00000383217.3:p.Tyr602=
ENST00000448424.7:c.1887C>T	ENSP00000416738.3:p.Tyr629=
ENST00000673772.1:c.2122-920C>T	ENSP00000501168.1:n.2122-920C>T
ENST00000674147.1:c.1426-920C>T	ENSP00000500964.1:n.1426-920C>T
ENST00000242839.8:c.2139C>T	ENSP00000242839.4:p.Tyr713=
ENST00000344297.8:c.1870-920C>T	ENSP00000342559.5:n.1870-920C>T
ENST00000400366.5:c.1806C>T	ENSP00000383217.3:p.Tyr602=
ENST00000400370.8:c.1286-8366C>T	ENSP00000383221.3:n.1286-8366C>T
ENST00000418097.7:c.2139C>T	ENSP00000393343.2:p.Tyr713=
ENST00000448424.6:c.2122-920C>T	ENSP00000416738.2:n.2122-920C>T
ENST00000482841.6:n.1682C>T
ENST00000634296.1:c.100C>T
ENST00000634308.1:c.2122-920C>T	ENSP00000489234.1:n.2122-920C>T
ENST00000634620.1:n.2234C>T
ENST00000634810.1:n.1484C>T
ENST00000634844.1:c.2122-127C>T	ENSP00000489398.1:n.2122-127C>T
ENST00000635406.1:n.212-12049C>T
NM_000053.3:c.2139C>T	NP_000044.2:p.Tyr713=
NM_001005918.2:c.1870-920C>T	NP_001005918.1:n.1870-920C>T
NM_001243182.1:c.1806C>T	NP_001230111.1:p.Tyr602=
XM_005266423.2:c.2043C>T	XP_005266480.1:p.Tyr681=
XM_005266424.3:c.2043C>T	XP_005266481.1:p.Tyr681=
XM_005266427.2:c.2122-920C>T	XP_005266484.1:n.2122-920C>T
XM_005266428.1:c.1887C>T	XP_005266485.1:p.Tyr629=
XM_005266430.3:c.2139C>T	XP_005266487.1:p.Tyr713=
XM_005266431.2:c.2103C>T	XP_005266488.1:p.Tyr701=
XM_005266432.2:c.1870-920C>T	XP_005266489.1:n.1870-920C>T
XM_006719837.2:c.2043C>T	XP_006719900.1:p.Tyr681=
XM_006719838.1:c.-46C>T	XP_006719901.1:n.-46C>T
XM_006719839.1:c.-46C>T	XP_006719902.1:n.-46C>T
XM_011535117.1:c.2043C>T	XP_011533419.1:p.Tyr681=
XM_011535118.1:c.2139C>T	XP_011533420.1:p.Tyr713=
XM_011535119.1:c.2139C>T	XP_011533421.1:p.Tyr713=
XM_011535120.1:c.1725C>T	XP_011533422.1:p.Tyr575=
XM_011535121.1:c.2139C>T	XP_011533423.1:p.Tyr713=
XM_011535122.1:c.807C>T	XP_011533424.1:p.Tyr269=
XR_941601.1:n.2358C>T
XR_941602.1:n.2358C>T
XR_941603.1:n.2358C>T
XR_941604.1:n.2358C>T
NM_001330578.1:c.2122-920C>T	NP_001317507.1:n.2122-920C>T
NM_001330579.1:c.1887C>T	NP_001317508.1:p.Tyr629=
XM_005266424.4:c.2043C>T	XP_005266481.1:p.Tyr681=
XM_005266430.4:c.2139C>T	XP_005266487.1:p.Tyr713=
XM_005266431.4:c.2103C>T	XP_005266488.1:p.Tyr701=
XM_006719837.3:c.2043C>T	XP_006719900.1:p.Tyr681=
XM_011535117.3:c.2043C>T	XP_011533419.1:p.Tyr681=
XM_017020627.1:c.2043C>T	XP_016876116.1:p.Tyr681=
NM_000053.4:c.2139C>T MANE Select	NP_000044.2:p.Tyr713=
NM_001005918.3:c.1870-920C>T	NP_001005918.1:n.1870-920C>T
NM_001330579.2:c.1887C>T	NP_001317508.1:p.Tyr629=
NM_001243182.2:c.1806C>T	NP_001230111.1:p.Tyr602=
NM_001330578.2:c.2122-920C>T	NP_001317507.1:n.2122-920C>T