Canonical Allele Identifier: CA388022260
Community Standard Title: NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937622G>A , CM000675.2:g.51937622G>A GRCh38
NC_000013.10:g.52511758G>A , CM000675.1:g.52511758G>A GRCh37
NC_000013.9:g.51409759G>A NCBI36
NG_008806.1:g.78873C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3757C>T MANE Select NP_000044.2:p.Gln1253Ter
ENST00000242839.10:c.3757C>T MANE Select ENSP00000242839.5:p.Gln1253Ter
NM_000053.3:c.3757C>T NP_000044.2:p.Gln1253Ter
NM_001005918.2:c.3136C>T NP_001005918.1:p.Gln1046Ter
NM_001005918.3:c.3136C>T NP_001005918.1:p.Gln1046Ter
NM_001243182.1:c.3424C>T NP_001230111.1:p.Gln1142Ter
NM_001243182.2:c.3424C>T NP_001230111.1:p.Gln1142Ter
NM_001330578.1:c.3523C>T NP_001317507.1:p.Gln1175Ter
NM_001330578.2:c.3523C>T NP_001317507.1:p.Gln1175Ter
NM_001330579.1:c.3505C>T NP_001317508.1:p.Gln1169Ter
NM_001330579.2:c.3505C>T NP_001317508.1:p.Gln1169Ter
ENST00000242839.8:c.3757C>T ENSP00000242839.4:p.Gln1253Ter
ENST00000344297.8:c.3136C>T ENSP00000342559.5:p.Gln1046Ter
ENST00000344297.9:c.3136C>T ENSP00000342559.5:p.Gln1046Ter
ENST00000400366.5:c.3424C>T ENSP00000383217.3:p.Gln1142Ter
ENST00000400366.6:c.3424C>T ENSP00000383217.3:p.Gln1142Ter
ENST00000400370.8:c.2467C>T ENSP00000383221.3:p.Gln823Ter
ENST00000418097.7:c.3562C>T ENSP00000393343.2:p.Gln1188Ter
ENST00000448424.6:c.3523C>T ENSP00000416738.2:p.Gln1175Ter
ENST00000448424.7:c.3505C>T ENSP00000416738.3:p.Gln1169Ter
ENST00000634296.1:c.1535C>T
ENST00000634296.2:c.*1407C>T ENSP00000489512.2:n.*1407C>T
ENST00000634308.1:c.*858C>T ENSP00000489234.1:n.*858C>T
ENST00000634620.1:n.4501C>T
ENST00000634810.1:n.3102C>T
ENST00000634844.1:c.3613C>T ENSP00000489398.1:p.Gln1205Ter
ENST00000673696.1:n.998C>T
ENST00000673772.1:c.3523C>T ENSP00000501168.1:p.Gln1175Ter
ENST00000673864.2:c.*2501C>T ENSP00000501045.2:n.*2501C>T
ENST00000673867.1:n.3896C>T
ENST00000673923.1:n.623C>T
ENST00000674147.1:c.2692C>T ENSP00000500964.1:p.Gln898Ter
ENST00000674147.2:c.3136C>T ENSP00000500964.2:p.Gln1046Ter
XM_005266423.2:c.3661C>T XP_005266480.1:p.Gln1221Ter
XM_005266424.3:c.3661C>T XP_005266481.1:p.Gln1221Ter
XM_005266424.4:c.3661C>T XP_005266481.1:p.Gln1221Ter
XM_005266427.2:c.3523C>T XP_005266484.1:p.Gln1175Ter
XM_005266428.1:c.3505C>T XP_005266485.1:p.Gln1169Ter
XM_005266430.3:c.3757C>T XP_005266487.1:p.Gln1253Ter
XM_005266430.4:c.3757C>T XP_005266487.1:p.Gln1253Ter
XM_005266431.2:c.3721C>T XP_005266488.1:p.Gln1241Ter
XM_005266431.4:c.3721C>T XP_005266488.1:p.Gln1241Ter
XM_005266432.2:c.3271C>T XP_005266489.1:p.Gln1091Ter
XM_006719837.2:c.3661C>T XP_006719900.1:p.Gln1221Ter
XM_006719837.3:c.3661C>T XP_006719900.1:p.Gln1221Ter
XM_006719838.1:c.1573C>T XP_006719901.1:p.Gln525Ter
XM_006719839.1:c.1390C>T XP_006719902.1:p.Gln464Ter
XM_011535117.1:c.3661C>T XP_011533419.1:p.Gln1221Ter
XM_011535117.3:c.3661C>T XP_011533419.1:p.Gln1221Ter
XM_011535118.1:c.3622C>T XP_011533420.1:p.Gln1208Ter
XM_011535119.1:c.3574C>T XP_011533421.1:p.Gln1192Ter
XM_011535120.1:c.3343C>T XP_011533422.1:p.Gln1115Ter
XM_011535121.1:c.3244C>T XP_011533423.1:p.Gln1082Ter
XM_011535122.1:c.2425C>T XP_011533424.1:p.Gln809Ter
XM_017020627.1:c.3661C>T XP_016876116.1:p.Gln1221Ter
XR_941601.1:n.3976C>T
XR_941602.1:n.3976C>T
XR_941603.1:n.3976C>T
XR_941604.1:n.3976C>T