Canonical Allele Identifier: CA388022198
Community Standard Title: NM_000053.4(ATP7B):c.3766C>T (p.Gln1256Ter)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937613G>A , CM000675.2:g.51937613G>A GRCh38
NC_000013.10:g.52511749G>A , CM000675.1:g.52511749G>A GRCh37
NC_000013.9:g.51409750G>A NCBI36
NG_008806.1:g.78882C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3766C>T MANE Select NP_000044.2:p.Gln1256Ter
ENST00000242839.10:c.3766C>T MANE Select ENSP00000242839.5:p.Gln1256Ter
NM_000053.3:c.3766C>T NP_000044.2:p.Gln1256Ter
NM_001005918.2:c.3145C>T NP_001005918.1:p.Gln1049Ter
NM_001005918.3:c.3145C>T NP_001005918.1:p.Gln1049Ter
NM_001243182.1:c.3433C>T NP_001230111.1:p.Gln1145Ter
NM_001243182.2:c.3433C>T NP_001230111.1:p.Gln1145Ter
NM_001330578.1:c.3532C>T NP_001317507.1:p.Gln1178Ter
NM_001330578.2:c.3532C>T NP_001317507.1:p.Gln1178Ter
NM_001330579.1:c.3514C>T NP_001317508.1:p.Gln1172Ter
NM_001330579.2:c.3514C>T NP_001317508.1:p.Gln1172Ter
ENST00000242839.8:c.3766C>T ENSP00000242839.4:p.Gln1256Ter
ENST00000344297.8:c.3145C>T ENSP00000342559.5:p.Gln1049Ter
ENST00000344297.9:c.3145C>T ENSP00000342559.5:p.Gln1049Ter
ENST00000400366.5:c.3433C>T ENSP00000383217.3:p.Gln1145Ter
ENST00000400366.6:c.3433C>T ENSP00000383217.3:p.Gln1145Ter
ENST00000400370.8:c.2476C>T ENSP00000383221.3:p.Gln826Ter
ENST00000418097.7:c.3571C>T ENSP00000393343.2:p.Gln1191Ter
ENST00000448424.6:c.3532C>T ENSP00000416738.2:p.Gln1178Ter
ENST00000448424.7:c.3514C>T ENSP00000416738.3:p.Gln1172Ter
ENST00000634296.1:c.1544C>T
ENST00000634296.2:c.*1416C>T ENSP00000489512.2:n.*1416C>T
ENST00000634308.1:c.*867C>T ENSP00000489234.1:n.*867C>T
ENST00000634620.1:n.4510C>T
ENST00000634810.1:n.3111C>T
ENST00000634844.1:c.3622C>T ENSP00000489398.1:p.Gln1208Ter
ENST00000673696.1:n.1007C>T
ENST00000673772.1:c.3532C>T ENSP00000501168.1:p.Gln1178Ter
ENST00000673864.2:c.*2510C>T ENSP00000501045.2:n.*2510C>T
ENST00000673867.1:n.3905C>T
ENST00000673923.1:n.632C>T
ENST00000674147.1:c.2701C>T ENSP00000500964.1:p.Gln901Ter
ENST00000674147.2:c.3145C>T ENSP00000500964.2:p.Gln1049Ter
XM_005266423.2:c.3670C>T XP_005266480.1:p.Gln1224Ter
XM_005266424.3:c.3670C>T XP_005266481.1:p.Gln1224Ter
XM_005266424.4:c.3670C>T XP_005266481.1:p.Gln1224Ter
XM_005266427.2:c.3532C>T XP_005266484.1:p.Gln1178Ter
XM_005266428.1:c.3514C>T XP_005266485.1:p.Gln1172Ter
XM_005266430.3:c.3766C>T XP_005266487.1:p.Gln1256Ter
XM_005266430.4:c.3766C>T XP_005266487.1:p.Gln1256Ter
XM_005266431.2:c.3730C>T XP_005266488.1:p.Gln1244Ter
XM_005266431.4:c.3730C>T XP_005266488.1:p.Gln1244Ter
XM_005266432.2:c.3280C>T XP_005266489.1:p.Gln1094Ter
XM_006719837.2:c.3670C>T XP_006719900.1:p.Gln1224Ter
XM_006719837.3:c.3670C>T XP_006719900.1:p.Gln1224Ter
XM_006719838.1:c.1582C>T XP_006719901.1:p.Gln528Ter
XM_006719839.1:c.1399C>T XP_006719902.1:p.Gln467Ter
XM_011535117.1:c.3670C>T XP_011533419.1:p.Gln1224Ter
XM_011535117.3:c.3670C>T XP_011533419.1:p.Gln1224Ter
XM_011535118.1:c.3631C>T XP_011533420.1:p.Gln1211Ter
XM_011535119.1:c.3583C>T XP_011533421.1:p.Gln1195Ter
XM_011535120.1:c.3352C>T XP_011533422.1:p.Gln1118Ter
XM_011535121.1:c.3253C>T XP_011533423.1:p.Gln1085Ter
XM_011535122.1:c.2434C>T XP_011533424.1:p.Gln812Ter
XM_017020627.1:c.3670C>T XP_016876116.1:p.Gln1224Ter
XR_941601.1:n.3985C>T
XR_941602.1:n.3985C>T
XR_941603.1:n.3985C>T
XR_941604.1:n.3985C>T