Canonical Allele Identifier: CA6988552
Community Standard Title: NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937502C>T , CM000675.2:g.51937502C>T GRCh38
NC_000013.10:g.52511638C>T , CM000675.1:g.52511638C>T GRCh37
NC_000013.9:g.51409639C>T NCBI36
NG_008806.1:g.78993G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3877G>A MANE Select NP_000044.2:p.Glu1293Lys
ENST00000242839.10:c.3877G>A MANE Select ENSP00000242839.5:p.Glu1293Lys
NM_000053.3:c.3877G>A NP_000044.2:p.Glu1293Lys
NM_001005918.2:c.3256G>A NP_001005918.1:p.Glu1086Lys
NM_001005918.3:c.3256G>A NP_001005918.1:p.Glu1086Lys
NM_001243182.1:c.3544G>A NP_001230111.1:p.Glu1182Lys
NM_001243182.2:c.3544G>A NP_001230111.1:p.Glu1182Lys
NM_001330578.1:c.3643G>A NP_001317507.1:p.Glu1215Lys
NM_001330578.2:c.3643G>A NP_001317507.1:p.Glu1215Lys
NM_001330579.1:c.3625G>A NP_001317508.1:p.Glu1209Lys
NM_001330579.2:c.3625G>A NP_001317508.1:p.Glu1209Lys
ENST00000242839.8:c.3877G>A ENSP00000242839.4:p.Glu1293Lys
ENST00000344297.8:c.3256G>A ENSP00000342559.5:p.Glu1086Lys
ENST00000344297.9:c.3256G>A ENSP00000342559.5:p.Glu1086Lys
ENST00000400366.5:c.3544G>A ENSP00000383217.3:p.Glu1182Lys
ENST00000400366.6:c.3544G>A ENSP00000383217.3:p.Glu1182Lys
ENST00000400370.8:c.2587G>A ENSP00000383221.3:p.Glu863Lys
ENST00000418097.7:c.3682G>A ENSP00000393343.2:p.Glu1228Lys
ENST00000448424.6:c.3643G>A ENSP00000416738.2:p.Glu1215Lys
ENST00000448424.7:c.3625G>A ENSP00000416738.3:p.Glu1209Lys
ENST00000634296.1:c.1655G>A
ENST00000634296.2:c.*1527G>A ENSP00000489512.2:n.*1527G>A
ENST00000634308.1:c.*978G>A ENSP00000489234.1:n.*978G>A
ENST00000634620.1:n.4621G>A
ENST00000634810.1:n.3222G>A
ENST00000634844.1:c.3733G>A ENSP00000489398.1:p.Glu1245Lys
ENST00000673696.1:n.1118G>A
ENST00000673772.1:c.3643G>A ENSP00000501168.1:p.Glu1215Lys
ENST00000673864.2:c.*2621G>A ENSP00000501045.2:n.*2621G>A
ENST00000673867.1:n.4016G>A
ENST00000673923.1:n.743G>A
ENST00000674147.1:c.2812G>A ENSP00000500964.1:p.Glu938Lys
ENST00000674147.2:c.3256G>A ENSP00000500964.2:p.Glu1086Lys
XM_005266423.2:c.3781G>A XP_005266480.1:p.Glu1261Lys
XM_005266424.3:c.3781G>A XP_005266481.1:p.Glu1261Lys
XM_005266424.4:c.3781G>A XP_005266481.1:p.Glu1261Lys
XM_005266427.2:c.3643G>A XP_005266484.1:p.Glu1215Lys
XM_005266428.1:c.3625G>A XP_005266485.1:p.Glu1209Lys
XM_005266430.3:c.3877G>A XP_005266487.1:p.Glu1293Lys
XM_005266430.4:c.3877G>A XP_005266487.1:p.Glu1293Lys
XM_005266431.2:c.3841G>A XP_005266488.1:p.Glu1281Lys
XM_005266431.4:c.3841G>A XP_005266488.1:p.Glu1281Lys
XM_005266432.2:c.3391G>A XP_005266489.1:p.Glu1131Lys
XM_006719837.2:c.3781G>A XP_006719900.1:p.Glu1261Lys
XM_006719837.3:c.3781G>A XP_006719900.1:p.Glu1261Lys
XM_006719838.1:c.1693G>A XP_006719901.1:p.Glu565Lys
XM_006719839.1:c.1510G>A XP_006719902.1:p.Glu504Lys
XM_011535117.1:c.3781G>A XP_011533419.1:p.Glu1261Lys
XM_011535117.3:c.3781G>A XP_011533419.1:p.Glu1261Lys
XM_011535118.1:c.3742G>A XP_011533420.1:p.Glu1248Lys
XM_011535119.1:c.3694G>A XP_011533421.1:p.Glu1232Lys
XM_011535120.1:c.3463G>A XP_011533422.1:p.Glu1155Lys
XM_011535121.1:c.3364G>A XP_011533423.1:p.Glu1122Lys
XM_011535122.1:c.2545G>A XP_011533424.1:p.Glu849Lys
XM_017020627.1:c.3781G>A XP_016876116.1:p.Glu1261Lys
XR_941601.1:n.4096G>A
XR_941602.1:n.4096G>A
XR_941603.1:n.4096G>A
XR_941604.1:n.4096G>A