Canonical Allele Identifier: CA388018514
Community Standard Title: NM_000053.4(ATP7B):c.4396T>A (p.Ter1466Arg)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51934758A>T , CM000675.2:g.51934758A>T GRCh38
NC_000013.10:g.52508894A>T , CM000675.1:g.52508894A>T GRCh37
NC_000013.9:g.51406895A>T NCBI36
NG_008806.1:g.81737T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4396T>A MANE Select NP_000044.2:p.Ter1466Arg
ENST00000242839.10:c.4396T>A MANE Select ENSP00000242839.5:p.Ter1466Arg
NM_000053.3:c.4396T>A NP_000044.2:p.Ter1466Arg
NM_001005918.2:c.3775T>A NP_001005918.1:p.Ter1259Arg
NM_001005918.3:c.3775T>A NP_001005918.1:p.Ter1259Arg
NM_001243182.1:c.4063T>A NP_001230111.1:p.Ter1355Arg
NM_001243182.2:c.4063T>A NP_001230111.1:p.Ter1355Arg
NM_001330578.1:c.4162T>A NP_001317507.1:p.Ter1388Arg
NM_001330578.2:c.4162T>A NP_001317507.1:p.Ter1388Arg
NM_001330579.1:c.4144T>A NP_001317508.1:p.Ter1382Arg
NM_001330579.2:c.4144T>A NP_001317508.1:p.Ter1382Arg
ENST00000242839.8:c.4396T>A ENSP00000242839.4:p.Ter1466Arg
ENST00000344297.8:c.3775T>A ENSP00000342559.5:p.Ter1259Arg
ENST00000344297.9:c.3775T>A ENSP00000342559.5:p.Ter1259Arg
ENST00000400366.5:c.4063T>A ENSP00000383217.3:p.Ter1355Arg
ENST00000400366.6:c.4063T>A ENSP00000383217.3:p.Ter1355Arg
ENST00000400370.8:c.3106T>A ENSP00000383221.3:p.Ter1036Arg
ENST00000418097.7:c.4201T>A ENSP00000393343.2:p.Ter1401Arg
ENST00000448424.6:c.4162T>A ENSP00000416738.2:p.Ter1388Arg
ENST00000448424.7:c.4144T>A ENSP00000416738.3:p.Ter1382Arg
ENST00000634296.1:c.2174T>A
ENST00000634296.2:c.*2046T>A ENSP00000489512.2:n.*2046T>A
ENST00000634308.1:c.*1497T>A ENSP00000489234.1:n.*1497T>A
ENST00000634620.1:n.5140T>A
ENST00000634810.1:n.3741T>A
ENST00000634844.1:c.4252T>A ENSP00000489398.1:p.Ter1418Arg
ENST00000673696.1:n.1719T>A
ENST00000673772.1:c.4162T>A ENSP00000501168.1:p.Ter1388Arg
ENST00000673864.2:c.*3140T>A ENSP00000501045.2:n.*3140T>A
ENST00000673867.1:n.4535T>A
ENST00000673923.1:n.1262T>A
ENST00000674147.1:c.3331T>A ENSP00000500964.1:p.Ter1111Arg
ENST00000674147.2:c.3775T>A ENSP00000500964.2:p.Ter1259Arg
XM_005266423.2:c.4300T>A XP_005266480.1:p.Ter1434Arg
XM_005266424.3:c.4300T>A XP_005266481.1:p.Ter1434Arg
XM_005266424.4:c.4300T>A XP_005266481.1:p.Ter1434Arg
XM_005266427.2:c.4162T>A XP_005266484.1:p.Ter1388Arg
XM_005266428.1:c.4144T>A XP_005266485.1:p.Ter1382Arg
XM_005266430.3:c.4396T>A XP_005266487.1:p.Ter1466Arg
XM_005266430.4:c.4396T>A XP_005266487.1:p.Ter1466Arg
XM_005266431.2:c.4360T>A XP_005266488.1:p.Ter1454Arg
XM_005266431.4:c.4360T>A XP_005266488.1:p.Ter1454Arg
XM_005266432.2:c.3910T>A XP_005266489.1:p.Ter1304Arg
XM_006719837.2:c.4300T>A XP_006719900.1:p.Ter1434Arg
XM_006719837.3:c.4300T>A XP_006719900.1:p.Ter1434Arg
XM_006719838.1:c.2212T>A XP_006719901.1:p.Ter738Arg
XM_006719839.1:c.2029T>A XP_006719902.1:p.Ter677Arg
XM_011535117.1:c.4300T>A XP_011533419.1:p.Ter1434Arg
XM_011535117.3:c.4300T>A XP_011533419.1:p.Ter1434Arg
XM_011535118.1:c.4261T>A XP_011533420.1:p.Ter1421Arg
XM_011535119.1:c.4213T>A XP_011533421.1:p.Ter1405Arg
XM_011535120.1:c.3982T>A XP_011533422.1:p.Ter1328Arg
XM_011535121.1:c.3883T>A XP_011533423.1:p.Ter1295Arg
XM_011535122.1:c.3064T>A XP_011533424.1:p.Ter1022Arg
XM_017020627.1:c.4300T>A XP_016876116.1:p.Ter1434Arg
XR_941601.1:n.4615T>A
XR_941602.1:n.4615T>A
XR_941603.1:n.4615T>A
XR_941604.1:n.4615T>A