Canonical Allele Identifier: CA388027691
Community Standard Title: NM_000053.4(ATP7B):c.3407A>G (p.Glu1136Gly)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51942391T>C , CM000675.2:g.51942391T>C GRCh38
NC_000013.10:g.52516527T>C , CM000675.1:g.52516527T>C GRCh37
NC_000013.9:g.51414528T>C NCBI36
NG_008806.1:g.74104A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3407A>G MANE Select NP_000044.2:p.Glu1136Gly
ENST00000242839.10:c.3407A>G MANE Select ENSP00000242839.5:p.Glu1136Gly
NM_000053.3:c.3407A>G NP_000044.2:p.Glu1136Gly
NM_001005918.2:c.2786A>G NP_001005918.1:p.Glu929Gly
NM_001005918.3:c.2786A>G NP_001005918.1:p.Glu929Gly
NM_001243182.1:c.3074A>G NP_001230111.1:p.Glu1025Gly
NM_001243182.2:c.3074A>G NP_001230111.1:p.Glu1025Gly
NM_001330578.1:c.3173A>G NP_001317507.1:p.Glu1058Gly
NM_001330578.2:c.3173A>G NP_001317507.1:p.Glu1058Gly
NM_001330579.1:c.3155A>G NP_001317508.1:p.Glu1052Gly
NM_001330579.2:c.3155A>G NP_001317508.1:p.Glu1052Gly
ENST00000242839.8:c.3407A>G ENSP00000242839.4:p.Glu1136Gly
ENST00000344297.8:c.2786A>G ENSP00000342559.5:p.Glu929Gly
ENST00000344297.9:c.2786A>G ENSP00000342559.5:p.Glu929Gly
ENST00000400366.5:c.3074A>G ENSP00000383217.3:p.Glu1025Gly
ENST00000400366.6:c.3074A>G ENSP00000383217.3:p.Glu1025Gly
ENST00000400370.8:c.2117A>G ENSP00000383221.3:p.Glu706Gly
ENST00000418097.7:c.3212A>G ENSP00000393343.2:p.Glu1071Gly
ENST00000448424.6:c.3173A>G ENSP00000416738.2:p.Glu1058Gly
ENST00000448424.7:c.3155A>G ENSP00000416738.3:p.Glu1052Gly
ENST00000634296.1:c.1185A>G
ENST00000634296.2:c.*1057A>G ENSP00000489512.2:n.*1057A>G
ENST00000634308.1:c.*508A>G ENSP00000489234.1:n.*508A>G
ENST00000634620.1:n.4151A>G
ENST00000634810.1:n.2752A>G
ENST00000634844.1:c.3263A>G ENSP00000489398.1:p.Glu1088Gly
ENST00000673772.1:c.3173A>G ENSP00000501168.1:p.Glu1058Gly
ENST00000673864.2:c.*2151A>G ENSP00000501045.2:n.*2151A>G
ENST00000673867.1:n.3546A>G
ENST00000674126.1:n.3770A>G
ENST00000674147.1:c.2342A>G ENSP00000500964.1:p.Glu781Gly
ENST00000674147.2:c.2786A>G ENSP00000500964.2:p.Glu929Gly
XM_005266423.2:c.3311A>G XP_005266480.1:p.Glu1104Gly
XM_005266424.3:c.3311A>G XP_005266481.1:p.Glu1104Gly
XM_005266424.4:c.3311A>G XP_005266481.1:p.Glu1104Gly
XM_005266427.2:c.3173A>G XP_005266484.1:p.Glu1058Gly
XM_005266428.1:c.3155A>G XP_005266485.1:p.Glu1052Gly
XM_005266430.3:c.3407A>G XP_005266487.1:p.Glu1136Gly
XM_005266430.4:c.3407A>G XP_005266487.1:p.Glu1136Gly
XM_005266431.2:c.3371A>G XP_005266488.1:p.Glu1124Gly
XM_005266431.4:c.3371A>G XP_005266488.1:p.Glu1124Gly
XM_005266432.2:c.2921A>G XP_005266489.1:p.Glu974Gly
XM_006719837.2:c.3311A>G XP_006719900.1:p.Glu1104Gly
XM_006719837.3:c.3311A>G XP_006719900.1:p.Glu1104Gly
XM_006719838.1:c.1223A>G XP_006719901.1:p.Glu408Gly
XM_006719839.1:c.1040A>G XP_006719902.1:p.Glu347Gly
XM_011535117.1:c.3311A>G XP_011533419.1:p.Glu1104Gly
XM_011535117.3:c.3311A>G XP_011533419.1:p.Glu1104Gly
XM_011535118.1:c.3272A>G XP_011533420.1:p.Glu1091Gly
XM_011535119.1:c.3224A>G XP_011533421.1:p.Glu1075Gly
XM_011535120.1:c.2993A>G XP_011533422.1:p.Glu998Gly
XM_011535121.1:c.2894A>G XP_011533423.1:p.Glu965Gly
XM_011535122.1:c.2075A>G XP_011533424.1:p.Glu692Gly
XM_017020627.1:c.3311A>G XP_016876116.1:p.Glu1104Gly
XR_941601.1:n.3626A>G
XR_941602.1:n.3626A>G
XR_941603.1:n.3626A>G
XR_941604.1:n.3626A>G