Canonical Allele Identifier: CA388030039

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518316C>A (hg19) ; chr13:g.51944180C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944180C>A , CM000675.2:g.51944180C>A	GRCh38
NC_000013.10:g.52518316C>A , CM000675.1:g.52518316C>A	GRCh37
NC_000013.9:g.51416317C>A	NCBI36
NG_008806.1:g.72315G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1626G>T	ENSP00000489512.2:n.*894-1626G>T
ENST00000673864.2:c.*1916G>T	ENSP00000501045.2:n.*1916G>T
ENST00000674147.2:c.2551G>T	ENSP00000500964.2:p.Ala851Ser
ENST00000242839.10:c.3172G>T MANE Select	ENSP00000242839.5:p.Ala1058Ser
ENST00000344297.9:c.2551G>T	ENSP00000342559.5:p.Ala851Ser
ENST00000400366.6:c.2839G>T	ENSP00000383217.3:p.Ala947Ser
ENST00000448424.7:c.2920G>T	ENSP00000416738.3:p.Ala974Ser
ENST00000673772.1:c.2938G>T	ENSP00000501168.1:p.Ala980Ser
ENST00000673867.1:n.3311G>T
ENST00000674126.1:n.3535G>T
ENST00000674147.1:c.2107G>T	ENSP00000500964.1:p.Ala703Ser
ENST00000242839.8:c.3172G>T	ENSP00000242839.4:p.Ala1058Ser
ENST00000344297.8:c.2551G>T	ENSP00000342559.5:p.Ala851Ser
ENST00000400366.5:c.2839G>T	ENSP00000383217.3:p.Ala947Ser
ENST00000400370.8:c.1882G>T	ENSP00000383221.3:p.Ala628Ser
ENST00000418097.7:c.2977G>T	ENSP00000393343.2:p.Ala993Ser
ENST00000448424.6:c.2938G>T	ENSP00000416738.2:p.Ala980Ser
ENST00000466629.1:n.392G>T
ENST00000634296.1:c.1022-1626G>T
ENST00000634308.1:c.*273G>T	ENSP00000489234.1:n.*273G>T
ENST00000634620.1:n.3916G>T
ENST00000634810.1:n.2517G>T
ENST00000634844.1:c.3028G>T	ENSP00000489398.1:p.Ala1010Ser
NM_000053.3:c.3172G>T	NP_000044.2:p.Ala1058Ser
NM_001005918.2:c.2551G>T	NP_001005918.1:p.Ala851Ser
NM_001243182.1:c.2839G>T	NP_001230111.1:p.Ala947Ser
XM_005266423.2:c.3076G>T	XP_005266480.1:p.Ala1026Ser
XM_005266424.3:c.3076G>T	XP_005266481.1:p.Ala1026Ser
XM_005266427.2:c.2938G>T	XP_005266484.1:p.Ala980Ser
XM_005266428.1:c.2920G>T	XP_005266485.1:p.Ala974Ser
XM_005266430.3:c.3172G>T	XP_005266487.1:p.Ala1058Ser
XM_005266431.2:c.3136G>T	XP_005266488.1:p.Ala1046Ser
XM_005266432.2:c.2686G>T	XP_005266489.1:p.Ala896Ser
XM_006719837.2:c.3076G>T	XP_006719900.1:p.Ala1026Ser
XM_006719838.1:c.988G>T	XP_006719901.1:p.Ala330Ser
XM_006719839.1:c.877-1626G>T	XP_006719902.1:n.877-1626G>T
XM_011535117.1:c.3076G>T	XP_011533419.1:p.Ala1026Ser
XM_011535118.1:c.3037G>T	XP_011533420.1:p.Ala1013Ser
XM_011535119.1:c.3061-1626G>T	XP_011533421.1:n.3061-1626G>T
XM_011535120.1:c.2758G>T	XP_011533422.1:p.Ala920Ser
XM_011535121.1:c.2731-1626G>T	XP_011533423.1:n.2731-1626G>T
XM_011535122.1:c.1840G>T	XP_011533424.1:p.Ala614Ser
XR_941601.1:n.3391G>T
XR_941602.1:n.3391G>T
XR_941603.1:n.3391G>T
XR_941604.1:n.3391G>T
NM_001330578.1:c.2938G>T	NP_001317507.1:p.Ala980Ser
NM_001330579.1:c.2920G>T	NP_001317508.1:p.Ala974Ser
XM_005266424.4:c.3076G>T	XP_005266481.1:p.Ala1026Ser
XM_005266430.4:c.3172G>T	XP_005266487.1:p.Ala1058Ser
XM_005266431.4:c.3136G>T	XP_005266488.1:p.Ala1046Ser
XM_006719837.3:c.3076G>T	XP_006719900.1:p.Ala1026Ser
XM_011535117.3:c.3076G>T	XP_011533419.1:p.Ala1026Ser
XM_017020627.1:c.3076G>T	XP_016876116.1:p.Ala1026Ser
NM_000053.4:c.3172G>T MANE Select	NP_000044.2:p.Ala1058Ser
NM_001005918.3:c.2551G>T	NP_001005918.1:p.Ala851Ser
NM_001330579.2:c.2920G>T	NP_001317508.1:p.Ala974Ser
NM_001243182.2:c.2839G>T	NP_001230111.1:p.Ala947Ser
NM_001330578.2:c.2938G>T	NP_001317507.1:p.Ala980Ser