Canonical Allele Identifier: CA6988529
Community Standard Title: NM_000053.4(ATP7B):c.3956G>A (p.Arg1319Gln)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937341C>T , CM000675.2:g.51937341C>T GRCh38
NC_000013.10:g.52511477C>T , CM000675.1:g.52511477C>T GRCh37
NC_000013.9:g.51409478C>T NCBI36
NG_008806.1:g.79154G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3956G>A MANE Select NP_000044.2:p.Arg1319Gln
ENST00000242839.10:c.3956G>A MANE Select ENSP00000242839.5:p.Arg1319Gln
NM_000053.3:c.3956G>A NP_000044.2:p.Arg1319Gln
NM_001005918.2:c.3335G>A NP_001005918.1:p.Arg1112Gln
NM_001005918.3:c.3335G>A NP_001005918.1:p.Arg1112Gln
NM_001243182.1:c.3623G>A NP_001230111.1:p.Arg1208Gln
NM_001243182.2:c.3623G>A NP_001230111.1:p.Arg1208Gln
NM_001330578.1:c.3722G>A NP_001317507.1:p.Arg1241Gln
NM_001330578.2:c.3722G>A NP_001317507.1:p.Arg1241Gln
NM_001330579.1:c.3704G>A NP_001317508.1:p.Arg1235Gln
NM_001330579.2:c.3704G>A NP_001317508.1:p.Arg1235Gln
ENST00000242839.8:c.3956G>A ENSP00000242839.4:p.Arg1319Gln
ENST00000344297.8:c.3335G>A ENSP00000342559.5:p.Arg1112Gln
ENST00000344297.9:c.3335G>A ENSP00000342559.5:p.Arg1112Gln
ENST00000400366.5:c.3623G>A ENSP00000383217.3:p.Arg1208Gln
ENST00000400366.6:c.3623G>A ENSP00000383217.3:p.Arg1208Gln
ENST00000400370.8:c.2666G>A ENSP00000383221.3:p.Arg889Gln
ENST00000418097.7:c.3761G>A ENSP00000393343.2:p.Arg1254Gln
ENST00000448424.6:c.3722G>A ENSP00000416738.2:p.Arg1241Gln
ENST00000448424.7:c.3704G>A ENSP00000416738.3:p.Arg1235Gln
ENST00000634296.1:c.1734G>A
ENST00000634296.2:c.*1606G>A ENSP00000489512.2:n.*1606G>A
ENST00000634308.1:c.*1057G>A ENSP00000489234.1:n.*1057G>A
ENST00000634620.1:n.4700G>A
ENST00000634810.1:n.3301G>A
ENST00000634844.1:c.3812G>A ENSP00000489398.1:p.Arg1271Gln
ENST00000673696.1:n.1279G>A
ENST00000673772.1:c.3722G>A ENSP00000501168.1:p.Arg1241Gln
ENST00000673864.2:c.*2700G>A ENSP00000501045.2:n.*2700G>A
ENST00000673867.1:n.4095G>A
ENST00000673923.1:n.822G>A
ENST00000674147.1:c.2891G>A ENSP00000500964.1:p.Arg964Gln
ENST00000674147.2:c.3335G>A ENSP00000500964.2:p.Arg1112Gln
XM_005266423.2:c.3860G>A XP_005266480.1:p.Arg1287Gln
XM_005266424.3:c.3860G>A XP_005266481.1:p.Arg1287Gln
XM_005266424.4:c.3860G>A XP_005266481.1:p.Arg1287Gln
XM_005266427.2:c.3722G>A XP_005266484.1:p.Arg1241Gln
XM_005266428.1:c.3704G>A XP_005266485.1:p.Arg1235Gln
XM_005266430.3:c.3956G>A XP_005266487.1:p.Arg1319Gln
XM_005266430.4:c.3956G>A XP_005266487.1:p.Arg1319Gln
XM_005266431.2:c.3920G>A XP_005266488.1:p.Arg1307Gln
XM_005266431.4:c.3920G>A XP_005266488.1:p.Arg1307Gln
XM_005266432.2:c.3470G>A XP_005266489.1:p.Arg1157Gln
XM_006719837.2:c.3860G>A XP_006719900.1:p.Arg1287Gln
XM_006719837.3:c.3860G>A XP_006719900.1:p.Arg1287Gln
XM_006719838.1:c.1772G>A XP_006719901.1:p.Arg591Gln
XM_006719839.1:c.1589G>A XP_006719902.1:p.Arg530Gln
XM_011535117.1:c.3860G>A XP_011533419.1:p.Arg1287Gln
XM_011535117.3:c.3860G>A XP_011533419.1:p.Arg1287Gln
XM_011535118.1:c.3821G>A XP_011533420.1:p.Arg1274Gln
XM_011535119.1:c.3773G>A XP_011533421.1:p.Arg1258Gln
XM_011535120.1:c.3542G>A XP_011533422.1:p.Arg1181Gln
XM_011535121.1:c.3443G>A XP_011533423.1:p.Arg1148Gln
XM_011535122.1:c.2624G>A XP_011533424.1:p.Arg875Gln
XM_017020627.1:c.3860G>A XP_016876116.1:p.Arg1287Gln
XR_941601.1:n.4175G>A
XR_941602.1:n.4175G>A
XR_941603.1:n.4175G>A
XR_941604.1:n.4175G>A