Canonical Allele Identifier: CA484024275

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511621G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937485G>T , CM000675.2:g.51937485G>T	GRCh38
NC_000013.10:g.52511621G>T , CM000675.1:g.52511621G>T	GRCh37
NC_000013.9:g.51409622G>T	NCBI36
NG_008806.1:g.79010C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1544C>A	ENSP00000489512.2:n.*1544C>A
ENST00000673864.2:c.*2638C>A	ENSP00000501045.2:n.*2638C>A
ENST00000674147.2:c.3273C>A	ENSP00000500964.2:p.Val1091=
ENST00000242839.10:c.3894C>A MANE Select	ENSP00000242839.5:p.Val1298=
ENST00000344297.9:c.3273C>A	ENSP00000342559.5:p.Val1091=
ENST00000400366.6:c.3561C>A	ENSP00000383217.3:p.Val1187=
ENST00000448424.7:c.3642C>A	ENSP00000416738.3:p.Val1214=
ENST00000673696.1:n.1135C>A
ENST00000673772.1:c.3660C>A	ENSP00000501168.1:p.Val1220=
ENST00000673867.1:n.4033C>A
ENST00000673923.1:n.760C>A
ENST00000674147.1:c.2829C>A	ENSP00000500964.1:p.Val943=
ENST00000242839.8:c.3894C>A	ENSP00000242839.4:p.Val1298=
ENST00000344297.8:c.3273C>A	ENSP00000342559.5:p.Val1091=
ENST00000400366.5:c.3561C>A	ENSP00000383217.3:p.Val1187=
ENST00000400370.8:c.2604C>A	ENSP00000383221.3:p.Val868=
ENST00000418097.7:c.3699C>A	ENSP00000393343.2:p.Val1233=
ENST00000448424.6:c.3660C>A	ENSP00000416738.2:p.Val1220=
ENST00000634296.1:c.1672C>A
ENST00000634308.1:c.*995C>A	ENSP00000489234.1:n.*995C>A
ENST00000634620.1:n.4638C>A
ENST00000634810.1:n.3239C>A
ENST00000634844.1:c.3750C>A	ENSP00000489398.1:p.Val1250=
NM_000053.3:c.3894C>A	NP_000044.2:p.Val1298=
NM_001005918.2:c.3273C>A	NP_001005918.1:p.Val1091=
NM_001243182.1:c.3561C>A	NP_001230111.1:p.Val1187=
XM_005266423.2:c.3798C>A	XP_005266480.1:p.Val1266=
XM_005266424.3:c.3798C>A	XP_005266481.1:p.Val1266=
XM_005266427.2:c.3660C>A	XP_005266484.1:p.Val1220=
XM_005266428.1:c.3642C>A	XP_005266485.1:p.Val1214=
XM_005266430.3:c.3894C>A	XP_005266487.1:p.Val1298=
XM_005266431.2:c.3858C>A	XP_005266488.1:p.Val1286=
XM_005266432.2:c.3408C>A	XP_005266489.1:p.Val1136=
XM_006719837.2:c.3798C>A	XP_006719900.1:p.Val1266=
XM_006719838.1:c.1710C>A	XP_006719901.1:p.Val570=
XM_006719839.1:c.1527C>A	XP_006719902.1:p.Val509=
XM_011535117.1:c.3798C>A	XP_011533419.1:p.Val1266=
XM_011535118.1:c.3759C>A	XP_011533420.1:p.Val1253=
XM_011535119.1:c.3711C>A	XP_011533421.1:p.Val1237=
XM_011535120.1:c.3480C>A	XP_011533422.1:p.Val1160=
XM_011535121.1:c.3381C>A	XP_011533423.1:p.Val1127=
XM_011535122.1:c.2562C>A	XP_011533424.1:p.Val854=
XR_941601.1:n.4113C>A
XR_941602.1:n.4113C>A
XR_941603.1:n.4113C>A
XR_941604.1:n.4113C>A
NM_001330578.1:c.3660C>A	NP_001317507.1:p.Val1220=
NM_001330579.1:c.3642C>A	NP_001317508.1:p.Val1214=
XM_005266424.4:c.3798C>A	XP_005266481.1:p.Val1266=
XM_005266430.4:c.3894C>A	XP_005266487.1:p.Val1298=
XM_005266431.4:c.3858C>A	XP_005266488.1:p.Val1286=
XM_006719837.3:c.3798C>A	XP_006719900.1:p.Val1266=
XM_011535117.3:c.3798C>A	XP_011533419.1:p.Val1266=
XM_017020627.1:c.3798C>A	XP_016876116.1:p.Val1266=
NM_000053.4:c.3894C>A MANE Select	NP_000044.2:p.Val1298=
NM_001005918.3:c.3273C>A	NP_001005918.1:p.Val1091=
NM_001330579.2:c.3642C>A	NP_001317508.1:p.Val1214=
NM_001243182.2:c.3561C>A	NP_001230111.1:p.Val1187=
NM_001330578.2:c.3660C>A	NP_001317507.1:p.Val1220=