Canonical Allele Identifier: CA6988467
Community Standard Title: NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51934992C>T , CM000675.2:g.51934992C>T GRCh38
NC_000013.10:g.52509128C>T , CM000675.1:g.52509128C>T GRCh37
NC_000013.9:g.51407129C>T NCBI36
NG_008806.1:g.81503G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4162G>A MANE Select NP_000044.2:p.Ala1388Thr
ENST00000242839.10:c.4162G>A MANE Select ENSP00000242839.5:p.Ala1388Thr
NM_000053.3:c.4162G>A NP_000044.2:p.Ala1388Thr
NM_001005918.2:c.3541G>A NP_001005918.1:p.Ala1181Thr
NM_001005918.3:c.3541G>A NP_001005918.1:p.Ala1181Thr
NM_001243182.1:c.3829G>A NP_001230111.1:p.Ala1277Thr
NM_001243182.2:c.3829G>A NP_001230111.1:p.Ala1277Thr
NM_001330578.1:c.3928G>A NP_001317507.1:p.Ala1310Thr
NM_001330578.2:c.3928G>A NP_001317507.1:p.Ala1310Thr
NM_001330579.1:c.3910G>A NP_001317508.1:p.Ala1304Thr
NM_001330579.2:c.3910G>A NP_001317508.1:p.Ala1304Thr
ENST00000242839.8:c.4162G>A ENSP00000242839.4:p.Ala1388Thr
ENST00000344297.8:c.3541G>A ENSP00000342559.5:p.Ala1181Thr
ENST00000344297.9:c.3541G>A ENSP00000342559.5:p.Ala1181Thr
ENST00000400366.5:c.3829G>A ENSP00000383217.3:p.Ala1277Thr
ENST00000400366.6:c.3829G>A ENSP00000383217.3:p.Ala1277Thr
ENST00000400370.8:c.2872G>A ENSP00000383221.3:p.Ala958Thr
ENST00000418097.7:c.3967G>A ENSP00000393343.2:p.Ala1323Thr
ENST00000448424.6:c.3928G>A ENSP00000416738.2:p.Ala1310Thr
ENST00000448424.7:c.3910G>A ENSP00000416738.3:p.Ala1304Thr
ENST00000634296.1:c.1940G>A
ENST00000634296.2:c.*1812G>A ENSP00000489512.2:n.*1812G>A
ENST00000634308.1:c.*1263G>A ENSP00000489234.1:n.*1263G>A
ENST00000634620.1:n.4906G>A
ENST00000634810.1:n.3507G>A
ENST00000634844.1:c.4018G>A ENSP00000489398.1:p.Ala1340Thr
ENST00000673696.1:n.1485G>A
ENST00000673772.1:c.3928G>A ENSP00000501168.1:p.Ala1310Thr
ENST00000673864.2:c.*2906G>A ENSP00000501045.2:n.*2906G>A
ENST00000673867.1:n.4301G>A
ENST00000673923.1:n.1028G>A
ENST00000674147.1:c.3097G>A ENSP00000500964.1:p.Ala1033Thr
ENST00000674147.2:c.3541G>A ENSP00000500964.2:p.Ala1181Thr
XM_005266423.2:c.4066G>A XP_005266480.1:p.Ala1356Thr
XM_005266424.3:c.4066G>A XP_005266481.1:p.Ala1356Thr
XM_005266424.4:c.4066G>A XP_005266481.1:p.Ala1356Thr
XM_005266427.2:c.3928G>A XP_005266484.1:p.Ala1310Thr
XM_005266428.1:c.3910G>A XP_005266485.1:p.Ala1304Thr
XM_005266430.3:c.4162G>A XP_005266487.1:p.Ala1388Thr
XM_005266430.4:c.4162G>A XP_005266487.1:p.Ala1388Thr
XM_005266431.2:c.4126G>A XP_005266488.1:p.Ala1376Thr
XM_005266431.4:c.4126G>A XP_005266488.1:p.Ala1376Thr
XM_005266432.2:c.3676G>A XP_005266489.1:p.Ala1226Thr
XM_006719837.2:c.4066G>A XP_006719900.1:p.Ala1356Thr
XM_006719837.3:c.4066G>A XP_006719900.1:p.Ala1356Thr
XM_006719838.1:c.1978G>A XP_006719901.1:p.Ala660Thr
XM_006719839.1:c.1795G>A XP_006719902.1:p.Ala599Thr
XM_011535117.1:c.4066G>A XP_011533419.1:p.Ala1356Thr
XM_011535117.3:c.4066G>A XP_011533419.1:p.Ala1356Thr
XM_011535118.1:c.4027G>A XP_011533420.1:p.Ala1343Thr
XM_011535119.1:c.3979G>A XP_011533421.1:p.Ala1327Thr
XM_011535120.1:c.3748G>A XP_011533422.1:p.Ala1250Thr
XM_011535121.1:c.3649G>A XP_011533423.1:p.Ala1217Thr
XM_011535122.1:c.2830G>A XP_011533424.1:p.Ala944Thr
XM_017020627.1:c.4066G>A XP_016876116.1:p.Ala1356Thr
XR_941601.1:n.4381G>A
XR_941602.1:n.4381G>A
XR_941603.1:n.4381G>A
XR_941604.1:n.4381G>A