Canonical Allele Identifier: CA388021725
Community Standard Title: NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937537C>T , CM000675.2:g.51937537C>T GRCh38
NC_000013.10:g.52511673C>T , CM000675.1:g.52511673C>T GRCh37
NC_000013.9:g.51409674C>T NCBI36
NG_008806.1:g.78958G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3842G>A MANE Select NP_000044.2:p.Gly1281Asp
ENST00000242839.10:c.3842G>A MANE Select ENSP00000242839.5:p.Gly1281Asp
NM_000053.3:c.3842G>A NP_000044.2:p.Gly1281Asp
NM_001005918.2:c.3221G>A NP_001005918.1:p.Gly1074Asp
NM_001005918.3:c.3221G>A NP_001005918.1:p.Gly1074Asp
NM_001243182.1:c.3509G>A NP_001230111.1:p.Gly1170Asp
NM_001243182.2:c.3509G>A NP_001230111.1:p.Gly1170Asp
NM_001330578.1:c.3608G>A NP_001317507.1:p.Gly1203Asp
NM_001330578.2:c.3608G>A NP_001317507.1:p.Gly1203Asp
NM_001330579.1:c.3590G>A NP_001317508.1:p.Gly1197Asp
NM_001330579.2:c.3590G>A NP_001317508.1:p.Gly1197Asp
ENST00000242839.8:c.3842G>A ENSP00000242839.4:p.Gly1281Asp
ENST00000344297.8:c.3221G>A ENSP00000342559.5:p.Gly1074Asp
ENST00000344297.9:c.3221G>A ENSP00000342559.5:p.Gly1074Asp
ENST00000400366.5:c.3509G>A ENSP00000383217.3:p.Gly1170Asp
ENST00000400366.6:c.3509G>A ENSP00000383217.3:p.Gly1170Asp
ENST00000400370.8:c.2552G>A ENSP00000383221.3:p.Gly851Asp
ENST00000418097.7:c.3647G>A ENSP00000393343.2:p.Gly1216Asp
ENST00000448424.6:c.3608G>A ENSP00000416738.2:p.Gly1203Asp
ENST00000448424.7:c.3590G>A ENSP00000416738.3:p.Gly1197Asp
ENST00000634296.1:c.1620G>A
ENST00000634296.2:c.*1492G>A ENSP00000489512.2:n.*1492G>A
ENST00000634308.1:c.*943G>A ENSP00000489234.1:n.*943G>A
ENST00000634620.1:n.4586G>A
ENST00000634810.1:n.3187G>A
ENST00000634844.1:c.3698G>A ENSP00000489398.1:p.Gly1233Asp
ENST00000673696.1:n.1083G>A
ENST00000673772.1:c.3608G>A ENSP00000501168.1:p.Gly1203Asp
ENST00000673864.2:c.*2586G>A ENSP00000501045.2:n.*2586G>A
ENST00000673867.1:n.3981G>A
ENST00000673923.1:n.708G>A
ENST00000674147.1:c.2777G>A ENSP00000500964.1:p.Gly926Asp
ENST00000674147.2:c.3221G>A ENSP00000500964.2:p.Gly1074Asp
XM_005266423.2:c.3746G>A XP_005266480.1:p.Gly1249Asp
XM_005266424.3:c.3746G>A XP_005266481.1:p.Gly1249Asp
XM_005266424.4:c.3746G>A XP_005266481.1:p.Gly1249Asp
XM_005266427.2:c.3608G>A XP_005266484.1:p.Gly1203Asp
XM_005266428.1:c.3590G>A XP_005266485.1:p.Gly1197Asp
XM_005266430.3:c.3842G>A XP_005266487.1:p.Gly1281Asp
XM_005266430.4:c.3842G>A XP_005266487.1:p.Gly1281Asp
XM_005266431.2:c.3806G>A XP_005266488.1:p.Gly1269Asp
XM_005266431.4:c.3806G>A XP_005266488.1:p.Gly1269Asp
XM_005266432.2:c.3356G>A XP_005266489.1:p.Gly1119Asp
XM_006719837.2:c.3746G>A XP_006719900.1:p.Gly1249Asp
XM_006719837.3:c.3746G>A XP_006719900.1:p.Gly1249Asp
XM_006719838.1:c.1658G>A XP_006719901.1:p.Gly553Asp
XM_006719839.1:c.1475G>A XP_006719902.1:p.Gly492Asp
XM_011535117.1:c.3746G>A XP_011533419.1:p.Gly1249Asp
XM_011535117.3:c.3746G>A XP_011533419.1:p.Gly1249Asp
XM_011535118.1:c.3707G>A XP_011533420.1:p.Gly1236Asp
XM_011535119.1:c.3659G>A XP_011533421.1:p.Gly1220Asp
XM_011535120.1:c.3428G>A XP_011533422.1:p.Gly1143Asp
XM_011535121.1:c.3329G>A XP_011533423.1:p.Gly1110Asp
XM_011535122.1:c.2510G>A XP_011533424.1:p.Gly837Asp
XM_017020627.1:c.3746G>A XP_016876116.1:p.Gly1249Asp
XR_941601.1:n.4061G>A
XR_941602.1:n.4061G>A
XR_941603.1:n.4061G>A
XR_941604.1:n.4061G>A