Canonical Allele Identifier: CA388021788
Community Standard Title: NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937546G>A , CM000675.2:g.51937546G>A GRCh38
NC_000013.10:g.52511682G>A , CM000675.1:g.52511682G>A GRCh37
NC_000013.9:g.51409683G>A NCBI36
NG_008806.1:g.78949C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3833C>T MANE Select NP_000044.2:p.Ala1278Val
ENST00000242839.10:c.3833C>T MANE Select ENSP00000242839.5:p.Ala1278Val
NM_000053.3:c.3833C>T NP_000044.2:p.Ala1278Val
NM_001005918.2:c.3212C>T NP_001005918.1:p.Ala1071Val
NM_001005918.3:c.3212C>T NP_001005918.1:p.Ala1071Val
NM_001243182.1:c.3500C>T NP_001230111.1:p.Ala1167Val
NM_001243182.2:c.3500C>T NP_001230111.1:p.Ala1167Val
NM_001330578.1:c.3599C>T NP_001317507.1:p.Ala1200Val
NM_001330578.2:c.3599C>T NP_001317507.1:p.Ala1200Val
NM_001330579.1:c.3581C>T NP_001317508.1:p.Ala1194Val
NM_001330579.2:c.3581C>T NP_001317508.1:p.Ala1194Val
ENST00000242839.8:c.3833C>T ENSP00000242839.4:p.Ala1278Val
ENST00000344297.8:c.3212C>T ENSP00000342559.5:p.Ala1071Val
ENST00000344297.9:c.3212C>T ENSP00000342559.5:p.Ala1071Val
ENST00000400366.5:c.3500C>T ENSP00000383217.3:p.Ala1167Val
ENST00000400366.6:c.3500C>T ENSP00000383217.3:p.Ala1167Val
ENST00000400370.8:c.2543C>T ENSP00000383221.3:p.Ala848Val
ENST00000418097.7:c.3638C>T ENSP00000393343.2:p.Ala1213Val
ENST00000448424.6:c.3599C>T ENSP00000416738.2:p.Ala1200Val
ENST00000448424.7:c.3581C>T ENSP00000416738.3:p.Ala1194Val
ENST00000634296.1:c.1611C>T
ENST00000634296.2:c.*1483C>T ENSP00000489512.2:n.*1483C>T
ENST00000634308.1:c.*934C>T ENSP00000489234.1:n.*934C>T
ENST00000634620.1:n.4577C>T
ENST00000634810.1:n.3178C>T
ENST00000634844.1:c.3689C>T ENSP00000489398.1:p.Ala1230Val
ENST00000673696.1:n.1074C>T
ENST00000673772.1:c.3599C>T ENSP00000501168.1:p.Ala1200Val
ENST00000673864.2:c.*2577C>T ENSP00000501045.2:n.*2577C>T
ENST00000673867.1:n.3972C>T
ENST00000673923.1:n.699C>T
ENST00000674147.1:c.2768C>T ENSP00000500964.1:p.Ala923Val
ENST00000674147.2:c.3212C>T ENSP00000500964.2:p.Ala1071Val
XM_005266423.2:c.3737C>T XP_005266480.1:p.Ala1246Val
XM_005266424.3:c.3737C>T XP_005266481.1:p.Ala1246Val
XM_005266424.4:c.3737C>T XP_005266481.1:p.Ala1246Val
XM_005266427.2:c.3599C>T XP_005266484.1:p.Ala1200Val
XM_005266428.1:c.3581C>T XP_005266485.1:p.Ala1194Val
XM_005266430.3:c.3833C>T XP_005266487.1:p.Ala1278Val
XM_005266430.4:c.3833C>T XP_005266487.1:p.Ala1278Val
XM_005266431.2:c.3797C>T XP_005266488.1:p.Ala1266Val
XM_005266431.4:c.3797C>T XP_005266488.1:p.Ala1266Val
XM_005266432.2:c.3347C>T XP_005266489.1:p.Ala1116Val
XM_006719837.2:c.3737C>T XP_006719900.1:p.Ala1246Val
XM_006719837.3:c.3737C>T XP_006719900.1:p.Ala1246Val
XM_006719838.1:c.1649C>T XP_006719901.1:p.Ala550Val
XM_006719839.1:c.1466C>T XP_006719902.1:p.Ala489Val
XM_011535117.1:c.3737C>T XP_011533419.1:p.Ala1246Val
XM_011535117.3:c.3737C>T XP_011533419.1:p.Ala1246Val
XM_011535118.1:c.3698C>T XP_011533420.1:p.Ala1233Val
XM_011535119.1:c.3650C>T XP_011533421.1:p.Ala1217Val
XM_011535120.1:c.3419C>T XP_011533422.1:p.Ala1140Val
XM_011535121.1:c.3320C>T XP_011533423.1:p.Ala1107Val
XM_011535122.1:c.2501C>T XP_011533424.1:p.Ala834Val
XM_017020627.1:c.3737C>T XP_016876116.1:p.Ala1246Val
XR_941601.1:n.4052C>T
XR_941602.1:n.4052C>T
XR_941603.1:n.4052C>T
XR_941604.1:n.4052C>T