Canonical Allele Identifier: CA388027653
Community Standard Title: NM_000053.4(ATP7B):c.3412G>C (p.Asp1138His)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51942386C>G , CM000675.2:g.51942386C>G GRCh38
NC_000013.10:g.52516522C>G , CM000675.1:g.52516522C>G GRCh37
NC_000013.9:g.51414523C>G NCBI36
NG_008806.1:g.74109G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3412G>C MANE Select NP_000044.2:p.Asp1138His
ENST00000242839.10:c.3412G>C MANE Select ENSP00000242839.5:p.Asp1138His
NM_000053.3:c.3412G>C NP_000044.2:p.Asp1138His
NM_001005918.2:c.2791G>C NP_001005918.1:p.Asp931His
NM_001005918.3:c.2791G>C NP_001005918.1:p.Asp931His
NM_001243182.1:c.3079G>C NP_001230111.1:p.Asp1027His
NM_001243182.2:c.3079G>C NP_001230111.1:p.Asp1027His
NM_001330578.1:c.3178G>C NP_001317507.1:p.Asp1060His
NM_001330578.2:c.3178G>C NP_001317507.1:p.Asp1060His
NM_001330579.1:c.3160G>C NP_001317508.1:p.Asp1054His
NM_001330579.2:c.3160G>C NP_001317508.1:p.Asp1054His
ENST00000242839.8:c.3412G>C ENSP00000242839.4:p.Asp1138His
ENST00000344297.8:c.2791G>C ENSP00000342559.5:p.Asp931His
ENST00000344297.9:c.2791G>C ENSP00000342559.5:p.Asp931His
ENST00000400366.5:c.3079G>C ENSP00000383217.3:p.Asp1027His
ENST00000400366.6:c.3079G>C ENSP00000383217.3:p.Asp1027His
ENST00000400370.8:c.2122G>C ENSP00000383221.3:p.Asp708His
ENST00000418097.7:c.3217G>C ENSP00000393343.2:p.Asp1073His
ENST00000448424.6:c.3178G>C ENSP00000416738.2:p.Asp1060His
ENST00000448424.7:c.3160G>C ENSP00000416738.3:p.Asp1054His
ENST00000634296.1:c.1190G>C
ENST00000634296.2:c.*1062G>C ENSP00000489512.2:n.*1062G>C
ENST00000634308.1:c.*513G>C ENSP00000489234.1:n.*513G>C
ENST00000634620.1:n.4156G>C
ENST00000634810.1:n.2757G>C
ENST00000634844.1:c.3268G>C ENSP00000489398.1:p.Asp1090His
ENST00000673772.1:c.3178G>C ENSP00000501168.1:p.Asp1060His
ENST00000673864.2:c.*2156G>C ENSP00000501045.2:n.*2156G>C
ENST00000673867.1:n.3551G>C
ENST00000674126.1:n.3775G>C
ENST00000674147.1:c.2347G>C ENSP00000500964.1:p.Asp783His
ENST00000674147.2:c.2791G>C ENSP00000500964.2:p.Asp931His
XM_005266423.2:c.3316G>C XP_005266480.1:p.Asp1106His
XM_005266424.3:c.3316G>C XP_005266481.1:p.Asp1106His
XM_005266424.4:c.3316G>C XP_005266481.1:p.Asp1106His
XM_005266427.2:c.3178G>C XP_005266484.1:p.Asp1060His
XM_005266428.1:c.3160G>C XP_005266485.1:p.Asp1054His
XM_005266430.3:c.3412G>C XP_005266487.1:p.Asp1138His
XM_005266430.4:c.3412G>C XP_005266487.1:p.Asp1138His
XM_005266431.2:c.3376G>C XP_005266488.1:p.Asp1126His
XM_005266431.4:c.3376G>C XP_005266488.1:p.Asp1126His
XM_005266432.2:c.2926G>C XP_005266489.1:p.Asp976His
XM_006719837.2:c.3316G>C XP_006719900.1:p.Asp1106His
XM_006719837.3:c.3316G>C XP_006719900.1:p.Asp1106His
XM_006719838.1:c.1228G>C XP_006719901.1:p.Asp410His
XM_006719839.1:c.1045G>C XP_006719902.1:p.Asp349His
XM_011535117.1:c.3316G>C XP_011533419.1:p.Asp1106His
XM_011535117.3:c.3316G>C XP_011533419.1:p.Asp1106His
XM_011535118.1:c.3277G>C XP_011533420.1:p.Asp1093His
XM_011535119.1:c.3229G>C XP_011533421.1:p.Asp1077His
XM_011535120.1:c.2998G>C XP_011533422.1:p.Asp1000His
XM_011535121.1:c.2899G>C XP_011533423.1:p.Asp967His
XM_011535122.1:c.2080G>C XP_011533424.1:p.Asp694His
XM_017020627.1:c.3316G>C XP_016876116.1:p.Asp1106His
XR_941601.1:n.3631G>C
XR_941602.1:n.3631G>C
XR_941603.1:n.3631G>C
XR_941604.1:n.3631G>C