Canonical Allele Identifier: CA6988527
Community Standard Title: NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937338C>G , CM000675.2:g.51937338C>G GRCh38
NC_000013.10:g.52511474C>G , CM000675.1:g.52511474C>G GRCh37
NC_000013.9:g.51409475C>G NCBI36
NG_008806.1:g.79157G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3959G>C MANE Select NP_000044.2:p.Arg1320Thr
ENST00000242839.10:c.3959G>C MANE Select ENSP00000242839.5:p.Arg1320Thr
NM_000053.3:c.3959G>C NP_000044.2:p.Arg1320Thr
NM_001005918.2:c.3338G>C NP_001005918.1:p.Arg1113Thr
NM_001005918.3:c.3338G>C NP_001005918.1:p.Arg1113Thr
NM_001243182.1:c.3626G>C NP_001230111.1:p.Arg1209Thr
NM_001243182.2:c.3626G>C NP_001230111.1:p.Arg1209Thr
NM_001330578.1:c.3725G>C NP_001317507.1:p.Arg1242Thr
NM_001330578.2:c.3725G>C NP_001317507.1:p.Arg1242Thr
NM_001330579.1:c.3707G>C NP_001317508.1:p.Arg1236Thr
NM_001330579.2:c.3707G>C NP_001317508.1:p.Arg1236Thr
ENST00000242839.8:c.3959G>C ENSP00000242839.4:p.Arg1320Thr
ENST00000344297.8:c.3338G>C ENSP00000342559.5:p.Arg1113Thr
ENST00000344297.9:c.3338G>C ENSP00000342559.5:p.Arg1113Thr
ENST00000400366.5:c.3626G>C ENSP00000383217.3:p.Arg1209Thr
ENST00000400366.6:c.3626G>C ENSP00000383217.3:p.Arg1209Thr
ENST00000400370.8:c.2669G>C ENSP00000383221.3:p.Arg890Thr
ENST00000418097.7:c.3764G>C ENSP00000393343.2:p.Arg1255Thr
ENST00000448424.6:c.3725G>C ENSP00000416738.2:p.Arg1242Thr
ENST00000448424.7:c.3707G>C ENSP00000416738.3:p.Arg1236Thr
ENST00000634296.1:c.1737G>C
ENST00000634296.2:c.*1609G>C ENSP00000489512.2:n.*1609G>C
ENST00000634308.1:c.*1060G>C ENSP00000489234.1:n.*1060G>C
ENST00000634620.1:n.4703G>C
ENST00000634810.1:n.3304G>C
ENST00000634844.1:c.3815G>C ENSP00000489398.1:p.Arg1272Thr
ENST00000673696.1:n.1282G>C
ENST00000673772.1:c.3725G>C ENSP00000501168.1:p.Arg1242Thr
ENST00000673864.2:c.*2703G>C ENSP00000501045.2:n.*2703G>C
ENST00000673867.1:n.4098G>C
ENST00000673923.1:n.825G>C
ENST00000674147.1:c.2894G>C ENSP00000500964.1:p.Arg965Thr
ENST00000674147.2:c.3338G>C ENSP00000500964.2:p.Arg1113Thr
XM_005266423.2:c.3863G>C XP_005266480.1:p.Arg1288Thr
XM_005266424.3:c.3863G>C XP_005266481.1:p.Arg1288Thr
XM_005266424.4:c.3863G>C XP_005266481.1:p.Arg1288Thr
XM_005266427.2:c.3725G>C XP_005266484.1:p.Arg1242Thr
XM_005266428.1:c.3707G>C XP_005266485.1:p.Arg1236Thr
XM_005266430.3:c.3959G>C XP_005266487.1:p.Arg1320Thr
XM_005266430.4:c.3959G>C XP_005266487.1:p.Arg1320Thr
XM_005266431.2:c.3923G>C XP_005266488.1:p.Arg1308Thr
XM_005266431.4:c.3923G>C XP_005266488.1:p.Arg1308Thr
XM_005266432.2:c.3473G>C XP_005266489.1:p.Arg1158Thr
XM_006719837.2:c.3863G>C XP_006719900.1:p.Arg1288Thr
XM_006719837.3:c.3863G>C XP_006719900.1:p.Arg1288Thr
XM_006719838.1:c.1775G>C XP_006719901.1:p.Arg592Thr
XM_006719839.1:c.1592G>C XP_006719902.1:p.Arg531Thr
XM_011535117.1:c.3863G>C XP_011533419.1:p.Arg1288Thr
XM_011535117.3:c.3863G>C XP_011533419.1:p.Arg1288Thr
XM_011535118.1:c.3824G>C XP_011533420.1:p.Arg1275Thr
XM_011535119.1:c.3776G>C XP_011533421.1:p.Arg1259Thr
XM_011535120.1:c.3545G>C XP_011533422.1:p.Arg1182Thr
XM_011535121.1:c.3446G>C XP_011533423.1:p.Arg1149Thr
XM_011535122.1:c.2627G>C XP_011533424.1:p.Arg876Thr
XM_017020627.1:c.3863G>C XP_016876116.1:p.Arg1288Thr
XR_941601.1:n.4178G>C
XR_941602.1:n.4178G>C
XR_941603.1:n.4178G>C
XR_941604.1:n.4178G>C