Canonical Allele Identifier: CA2091550153
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51958475C= , CM000675.2:g.51958475C= GRCh38
NC_000013.10:g.52532611C= , CM000675.1:g.52532611C= GRCh37
NC_000013.9:g.51430612C= NCBI36
NG_008806.1:g.58020G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*24G= ENSP00000489512.2:n.*24G=
ENST00000673864.2:c.*935G= ENSP00000501045.2:n.*935G=
ENST00000674147.2:c.1870-868G= ENSP00000500964.2:n.1870-868G=
ENST00000242839.10:c.2191G= MANE Select ENSP00000242839.5:p.Val731=
ENST00000344297.9:c.1870-868G= ENSP00000342559.5:n.1870-868G=
ENST00000400366.6:c.1858G= ENSP00000383217.3:p.Val620=
ENST00000448424.7:c.1939G= ENSP00000416738.3:p.Val647=
ENST00000673772.1:c.2122-868G= ENSP00000501168.1:n.2122-868G=
ENST00000674147.1:c.1426-868G= ENSP00000500964.1:n.1426-868G=
ENST00000242839.8:c.2191G= ENSP00000242839.4:p.Val731=
ENST00000344297.8:c.1870-868G= ENSP00000342559.5:n.1870-868G=
ENST00000400366.5:c.1858G= ENSP00000383217.3:p.Val620=
ENST00000400370.8:c.1286-8314G= ENSP00000383221.3:n.1286-8314G=
ENST00000418097.7:c.2191G= ENSP00000393343.2:p.Val731=
ENST00000448424.6:c.2122-868G= ENSP00000416738.2:n.2122-868G=
ENST00000482841.6:n.1734G=
ENST00000634296.1:c.152G=
ENST00000634308.1:c.2122-868G= ENSP00000489234.1:n.2122-868G=
ENST00000634620.1:n.2286G=
ENST00000634810.1:n.1536G=
ENST00000634844.1:c.2122-75G= ENSP00000489398.1:n.2122-75G=
ENST00000635406.1:n.212-11997G=
NM_000053.3:c.2191G= NP_000044.2:p.Val731=
NM_001005918.2:c.1870-868G= NP_001005918.1:n.1870-868G=
NM_001243182.1:c.1858G= NP_001230111.1:p.Val620=
XM_005266423.2:c.2095G= XP_005266480.1:p.Val699=
XM_005266424.3:c.2095G= XP_005266481.1:p.Val699=
XM_005266427.2:c.2122-868G= XP_005266484.1:n.2122-868G=
XM_005266428.1:c.1939G= XP_005266485.1:p.Val647=
XM_005266430.3:c.2191G= XP_005266487.1:p.Val731=
XM_005266431.2:c.2155G= XP_005266488.1:p.Val719=
XM_005266432.2:c.1870-868G= XP_005266489.1:n.1870-868G=
XM_006719837.2:c.2095G= XP_006719900.1:p.Val699=
XM_006719838.1:c.7G= XP_006719901.1:p.Val3=
XM_006719839.1:c.7G= XP_006719902.1:p.Val3=
XM_011535117.1:c.2095G= XP_011533419.1:p.Val699=
XM_011535118.1:c.2191G= XP_011533420.1:p.Val731=
XM_011535119.1:c.2191G= XP_011533421.1:p.Val731=
XM_011535120.1:c.1777G= XP_011533422.1:p.Val593=
XM_011535121.1:c.2191G= XP_011533423.1:p.Val731=
XM_011535122.1:c.859G= XP_011533424.1:p.Val287=
XR_941601.1:n.2410G=
XR_941602.1:n.2410G=
XR_941603.1:n.2410G=
XR_941604.1:n.2410G=
NM_001330578.1:c.2122-868G= NP_001317507.1:n.2122-868G=
NM_001330579.1:c.1939G= NP_001317508.1:p.Val647=
XM_005266424.4:c.2095G= XP_005266481.1:p.Val699=
XM_005266430.4:c.2191G= XP_005266487.1:p.Val731=
XM_005266431.4:c.2155G= XP_005266488.1:p.Val719=
XM_006719837.3:c.2095G= XP_006719900.1:p.Val699=
XM_011535117.3:c.2095G= XP_011533419.1:p.Val699=
XM_017020627.1:c.2095G= XP_016876116.1:p.Val699=
NM_000053.4:c.2191G= MANE Select NP_000044.2:p.Val731=
NM_001005918.3:c.1870-868G= NP_001005918.1:n.1870-868G=
NM_001330579.2:c.1939G= NP_001317508.1:p.Val647=
NM_001243182.2:c.1858G= NP_001230111.1:p.Val620=
NM_001330578.2:c.2122-868G= NP_001317507.1:n.2122-868G=