Canonical Allele Identifier: CA6988427
Community Standard Title: NM_000053.4(ATP7B):c.4309A>T (p.Lys1437Ter)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51934845T>A , CM000675.2:g.51934845T>A GRCh38
NC_000013.10:g.52508981T>A , CM000675.1:g.52508981T>A GRCh37
NC_000013.9:g.51406982T>A NCBI36
NG_008806.1:g.81650A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4309A>T MANE Select NP_000044.2:p.Lys1437Ter
ENST00000242839.10:c.4309A>T MANE Select ENSP00000242839.5:p.Lys1437Ter
NM_000053.3:c.4309A>T NP_000044.2:p.Lys1437Ter
NM_001005918.2:c.3688A>T NP_001005918.1:p.Lys1230Ter
NM_001005918.3:c.3688A>T NP_001005918.1:p.Lys1230Ter
NM_001243182.1:c.3976A>T NP_001230111.1:p.Lys1326Ter
NM_001243182.2:c.3976A>T NP_001230111.1:p.Lys1326Ter
NM_001330578.1:c.4075A>T NP_001317507.1:p.Lys1359Ter
NM_001330578.2:c.4075A>T NP_001317507.1:p.Lys1359Ter
NM_001330579.1:c.4057A>T NP_001317508.1:p.Lys1353Ter
NM_001330579.2:c.4057A>T NP_001317508.1:p.Lys1353Ter
ENST00000242839.8:c.4309A>T ENSP00000242839.4:p.Lys1437Ter
ENST00000344297.8:c.3688A>T ENSP00000342559.5:p.Lys1230Ter
ENST00000344297.9:c.3688A>T ENSP00000342559.5:p.Lys1230Ter
ENST00000400366.5:c.3976A>T ENSP00000383217.3:p.Lys1326Ter
ENST00000400366.6:c.3976A>T ENSP00000383217.3:p.Lys1326Ter
ENST00000400370.8:c.3019A>T ENSP00000383221.3:p.Lys1007Ter
ENST00000418097.7:c.4114A>T ENSP00000393343.2:p.Lys1372Ter
ENST00000448424.6:c.4075A>T ENSP00000416738.2:p.Lys1359Ter
ENST00000448424.7:c.4057A>T ENSP00000416738.3:p.Lys1353Ter
ENST00000634296.1:c.2087A>T
ENST00000634296.2:c.*1959A>T ENSP00000489512.2:n.*1959A>T
ENST00000634308.1:c.*1410A>T ENSP00000489234.1:n.*1410A>T
ENST00000634620.1:n.5053A>T
ENST00000634810.1:n.3654A>T
ENST00000634844.1:c.4165A>T ENSP00000489398.1:p.Lys1389Ter
ENST00000673696.1:n.1632A>T
ENST00000673772.1:c.4075A>T ENSP00000501168.1:p.Lys1359Ter
ENST00000673864.2:c.*3053A>T ENSP00000501045.2:n.*3053A>T
ENST00000673867.1:n.4448A>T
ENST00000673923.1:n.1175A>T
ENST00000674147.1:c.3244A>T ENSP00000500964.1:p.Lys1082Ter
ENST00000674147.2:c.3688A>T ENSP00000500964.2:p.Lys1230Ter
XM_005266423.2:c.4213A>T XP_005266480.1:p.Lys1405Ter
XM_005266424.3:c.4213A>T XP_005266481.1:p.Lys1405Ter
XM_005266424.4:c.4213A>T XP_005266481.1:p.Lys1405Ter
XM_005266427.2:c.4075A>T XP_005266484.1:p.Lys1359Ter
XM_005266428.1:c.4057A>T XP_005266485.1:p.Lys1353Ter
XM_005266430.3:c.4309A>T XP_005266487.1:p.Lys1437Ter
XM_005266430.4:c.4309A>T XP_005266487.1:p.Lys1437Ter
XM_005266431.2:c.4273A>T XP_005266488.1:p.Lys1425Ter
XM_005266431.4:c.4273A>T XP_005266488.1:p.Lys1425Ter
XM_005266432.2:c.3823A>T XP_005266489.1:p.Lys1275Ter
XM_006719837.2:c.4213A>T XP_006719900.1:p.Lys1405Ter
XM_006719837.3:c.4213A>T XP_006719900.1:p.Lys1405Ter
XM_006719838.1:c.2125A>T XP_006719901.1:p.Lys709Ter
XM_006719839.1:c.1942A>T XP_006719902.1:p.Lys648Ter
XM_011535117.1:c.4213A>T XP_011533419.1:p.Lys1405Ter
XM_011535117.3:c.4213A>T XP_011533419.1:p.Lys1405Ter
XM_011535118.1:c.4174A>T XP_011533420.1:p.Lys1392Ter
XM_011535119.1:c.4126A>T XP_011533421.1:p.Lys1376Ter
XM_011535120.1:c.3895A>T XP_011533422.1:p.Lys1299Ter
XM_011535121.1:c.3796A>T XP_011533423.1:p.Lys1266Ter
XM_011535122.1:c.2977A>T XP_011533424.1:p.Lys993Ter
XM_017020627.1:c.4213A>T XP_016876116.1:p.Lys1405Ter
XR_941601.1:n.4528A>T
XR_941602.1:n.4528A>T
XR_941603.1:n.4528A>T
XR_941604.1:n.4528A>T