Canonical Allele Identifier: CA2091541530
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51949772G= , CM000675.2:g.51949772G= GRCh38
NC_000013.10:g.52523908G= , CM000675.1:g.52523908G= GRCh37
NC_000013.9:g.51421909G= NCBI36
NG_008806.1:g.66723C=

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.2755C= MANE Select NP_000044.2:p.Arg919=
ENST00000242839.10:c.2755C= MANE Select ENSP00000242839.5:p.Arg919=
NM_000053.3:c.2755C= NP_000044.2:p.Arg919=
NM_001005918.2:c.2244+235C= NP_001005918.1:n.2244+235C=
NM_001005918.3:c.2244+235C= NP_001005918.1:n.2244+235C=
NM_001243182.1:c.2422C= NP_001230111.1:p.Arg808=
NM_001243182.2:c.2422C= NP_001230111.1:p.Arg808=
NM_001330578.1:c.2521C= NP_001317507.1:p.Arg841=
NM_001330578.2:c.2521C= NP_001317507.1:p.Arg841=
NM_001330579.1:c.2503C= NP_001317508.1:p.Arg835=
NM_001330579.2:c.2503C= NP_001317508.1:p.Arg835=
ENST00000242839.8:c.2755C= ENSP00000242839.4:p.Arg919=
ENST00000344297.8:c.2244+235C= ENSP00000342559.5:n.2244+235C=
ENST00000344297.9:c.2244+235C= ENSP00000342559.5:n.2244+235C=
ENST00000400366.5:c.2422C= ENSP00000383217.3:p.Arg808=
ENST00000400366.6:c.2422C= ENSP00000383217.3:p.Arg808=
ENST00000400370.8:c.1465C= ENSP00000383221.3:p.Arg489=
ENST00000418097.7:c.2755C= ENSP00000393343.2:p.Arg919=
ENST00000448424.6:c.2521C= ENSP00000416738.2:p.Arg841=
ENST00000448424.7:c.2503C= ENSP00000416738.3:p.Arg835=
ENST00000634296.1:c.716C=
ENST00000634296.2:c.*588C= ENSP00000489512.2:n.*588C=
ENST00000634308.1:c.2521C= ENSP00000489234.1:p.Arg841=
ENST00000634620.1:n.3553C=
ENST00000634810.1:n.2100C=
ENST00000634844.1:c.2611C= ENSP00000489398.1:p.Arg871=
ENST00000635406.1:n.212-3294C=
ENST00000673772.1:c.2521C= ENSP00000501168.1:p.Arg841=
ENST00000673864.2:c.*1499C= ENSP00000501045.2:n.*1499C=
ENST00000674147.1:c.1800+235C= ENSP00000500964.1:n.1800+235C=
ENST00000674147.2:c.2244+235C= ENSP00000500964.2:n.2244+235C=
XM_005266423.2:c.2659C= XP_005266480.1:p.Arg887=
XM_005266424.3:c.2659C= XP_005266481.1:p.Arg887=
XM_005266424.4:c.2659C= XP_005266481.1:p.Arg887=
XM_005266427.2:c.2521C= XP_005266484.1:p.Arg841=
XM_005266428.1:c.2503C= XP_005266485.1:p.Arg835=
XM_005266430.3:c.2755C= XP_005266487.1:p.Arg919=
XM_005266430.4:c.2755C= XP_005266487.1:p.Arg919=
XM_005266431.2:c.2719C= XP_005266488.1:p.Arg907=
XM_005266431.4:c.2719C= XP_005266488.1:p.Arg907=
XM_005266432.2:c.2269C= XP_005266489.1:p.Arg757=
XM_006719837.2:c.2659C= XP_006719900.1:p.Arg887=
XM_006719837.3:c.2659C= XP_006719900.1:p.Arg887=
XM_006719838.1:c.571C= XP_006719901.1:p.Arg191=
XM_006719839.1:c.571C= XP_006719902.1:p.Arg191=
XM_011535117.1:c.2659C= XP_011533419.1:p.Arg887=
XM_011535117.3:c.2659C= XP_011533419.1:p.Arg887=
XM_011535118.1:c.2730+235C= XP_011533420.1:n.2730+235C=
XM_011535119.1:c.2755C= XP_011533421.1:p.Arg919=
XM_011535120.1:c.2341C= XP_011533422.1:p.Arg781=
XM_011535121.1:c.2730+235C= XP_011533423.1:n.2730+235C=
XM_011535122.1:c.1423C= XP_011533424.1:p.Arg475=
XM_017020627.1:c.2659C= XP_016876116.1:p.Arg887=
XR_941601.1:n.2974C=
XR_941602.1:n.2974C=
XR_941603.1:n.2974C=
XR_941604.1:n.2974C=