Canonical Allele Identifier: CA388022640

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52532589C>A (hg19) ; chr13:g.51958453C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958453C>A , CM000675.2:g.51958453C>A	GRCh38
NC_000013.10:g.52532589C>A , CM000675.1:g.52532589C>A	GRCh37
NC_000013.9:g.51430590C>A	NCBI36
NG_008806.1:g.58042G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*46G>T	ENSP00000489512.2:n.*46G>T
ENST00000673864.2:c.*957G>T	ENSP00000501045.2:n.*957G>T
ENST00000674147.2:c.1870-846G>T	ENSP00000500964.2:n.1870-846G>T
ENST00000242839.10:c.2213G>T MANE Select	ENSP00000242839.5:p.Ser738Ile
ENST00000344297.9:c.1870-846G>T	ENSP00000342559.5:n.1870-846G>T
ENST00000400366.6:c.1880G>T	ENSP00000383217.3:p.Ser627Ile
ENST00000448424.7:c.1961G>T	ENSP00000416738.3:p.Ser654Ile
ENST00000673772.1:c.2122-846G>T	ENSP00000501168.1:n.2122-846G>T
ENST00000674147.1:c.1426-846G>T	ENSP00000500964.1:n.1426-846G>T
ENST00000242839.8:c.2213G>T	ENSP00000242839.4:p.Ser738Ile
ENST00000344297.8:c.1870-846G>T	ENSP00000342559.5:n.1870-846G>T
ENST00000400366.5:c.1880G>T	ENSP00000383217.3:p.Ser627Ile
ENST00000400370.8:c.1286-8292G>T	ENSP00000383221.3:n.1286-8292G>T
ENST00000418097.7:c.2213G>T	ENSP00000393343.2:p.Ser738Ile
ENST00000448424.6:c.2122-846G>T	ENSP00000416738.2:n.2122-846G>T
ENST00000482841.6:n.1756G>T
ENST00000634296.1:c.174G>T
ENST00000634308.1:c.2122-846G>T	ENSP00000489234.1:n.2122-846G>T
ENST00000634620.1:n.2308G>T
ENST00000634810.1:n.1558G>T
ENST00000634844.1:c.2122-53G>T	ENSP00000489398.1:n.2122-53G>T
ENST00000635406.1:n.212-11975G>T
NM_000053.3:c.2213G>T	NP_000044.2:p.Ser738Ile
NM_001005918.2:c.1870-846G>T	NP_001005918.1:n.1870-846G>T
NM_001243182.1:c.1880G>T	NP_001230111.1:p.Ser627Ile
XM_005266423.2:c.2117G>T	XP_005266480.1:p.Ser706Ile
XM_005266424.3:c.2117G>T	XP_005266481.1:p.Ser706Ile
XM_005266427.2:c.2122-846G>T	XP_005266484.1:n.2122-846G>T
XM_005266428.1:c.1961G>T	XP_005266485.1:p.Ser654Ile
XM_005266430.3:c.2213G>T	XP_005266487.1:p.Ser738Ile
XM_005266431.2:c.2177G>T	XP_005266488.1:p.Ser726Ile
XM_005266432.2:c.1870-846G>T	XP_005266489.1:n.1870-846G>T
XM_006719837.2:c.2117G>T	XP_006719900.1:p.Ser706Ile
XM_006719838.1:c.29G>T	XP_006719901.1:p.Ser10Ile
XM_006719839.1:c.29G>T	XP_006719902.1:p.Ser10Ile
XM_011535117.1:c.2117G>T	XP_011533419.1:p.Ser706Ile
XM_011535118.1:c.2213G>T	XP_011533420.1:p.Ser738Ile
XM_011535119.1:c.2213G>T	XP_011533421.1:p.Ser738Ile
XM_011535120.1:c.1799G>T	XP_011533422.1:p.Ser600Ile
XM_011535121.1:c.2213G>T	XP_011533423.1:p.Ser738Ile
XM_011535122.1:c.881G>T	XP_011533424.1:p.Ser294Ile
XR_941601.1:n.2432G>T
XR_941602.1:n.2432G>T
XR_941603.1:n.2432G>T
XR_941604.1:n.2432G>T
NM_001330578.1:c.2122-846G>T	NP_001317507.1:n.2122-846G>T
NM_001330579.1:c.1961G>T	NP_001317508.1:p.Ser654Ile
XM_005266424.4:c.2117G>T	XP_005266481.1:p.Ser706Ile
XM_005266430.4:c.2213G>T	XP_005266487.1:p.Ser738Ile
XM_005266431.4:c.2177G>T	XP_005266488.1:p.Ser726Ile
XM_006719837.3:c.2117G>T	XP_006719900.1:p.Ser706Ile
XM_011535117.3:c.2117G>T	XP_011533419.1:p.Ser706Ile
XM_017020627.1:c.2117G>T	XP_016876116.1:p.Ser706Ile
NM_000053.4:c.2213G>T MANE Select	NP_000044.2:p.Ser738Ile
NM_001005918.3:c.1870-846G>T	NP_001005918.1:n.1870-846G>T
NM_001330579.2:c.1961G>T	NP_001317508.1:p.Ser654Ile
NM_001243182.2:c.1880G>T	NP_001230111.1:p.Ser627Ile
NM_001330578.2:c.2122-846G>T	NP_001317507.1:n.2122-846G>T