Canonical Allele Identifier: CA2091550185
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51958496G= , CM000675.2:g.51958496G= GRCh38
NC_000013.10:g.52532632G= , CM000675.1:g.52532632G= GRCh37
NC_000013.9:g.51430633G= NCBI36
NG_008806.1:g.57999C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*3C= ENSP00000489512.2:n.*3C=
ENST00000673864.2:c.*914C= ENSP00000501045.2:n.*914C=
ENST00000674147.2:c.1870-889C= ENSP00000500964.2:n.1870-889C=
ENST00000242839.10:c.2170C= MANE Select ENSP00000242839.5:p.His724=
ENST00000344297.9:c.1870-889C= ENSP00000342559.5:n.1870-889C=
ENST00000400366.6:c.1837C= ENSP00000383217.3:p.His613=
ENST00000448424.7:c.1918C= ENSP00000416738.3:p.His640=
ENST00000673772.1:c.2122-889C= ENSP00000501168.1:n.2122-889C=
ENST00000674147.1:c.1426-889C= ENSP00000500964.1:n.1426-889C=
ENST00000242839.8:c.2170C= ENSP00000242839.4:p.His724=
ENST00000344297.8:c.1870-889C= ENSP00000342559.5:n.1870-889C=
ENST00000400366.5:c.1837C= ENSP00000383217.3:p.His613=
ENST00000400370.8:c.1286-8335C= ENSP00000383221.3:n.1286-8335C=
ENST00000418097.7:c.2170C= ENSP00000393343.2:p.His724=
ENST00000448424.6:c.2122-889C= ENSP00000416738.2:n.2122-889C=
ENST00000482841.6:n.1713C=
ENST00000634296.1:c.131C=
ENST00000634308.1:c.2122-889C= ENSP00000489234.1:n.2122-889C=
ENST00000634620.1:n.2265C=
ENST00000634810.1:n.1515C=
ENST00000634844.1:c.2122-96C= ENSP00000489398.1:n.2122-96C=
ENST00000635406.1:n.212-12018C=
NM_000053.3:c.2170C= NP_000044.2:p.His724=
NM_001005918.2:c.1870-889C= NP_001005918.1:n.1870-889C=
NM_001243182.1:c.1837C= NP_001230111.1:p.His613=
XM_005266423.2:c.2074C= XP_005266480.1:p.His692=
XM_005266424.3:c.2074C= XP_005266481.1:p.His692=
XM_005266427.2:c.2122-889C= XP_005266484.1:n.2122-889C=
XM_005266428.1:c.1918C= XP_005266485.1:p.His640=
XM_005266430.3:c.2170C= XP_005266487.1:p.His724=
XM_005266431.2:c.2134C= XP_005266488.1:p.His712=
XM_005266432.2:c.1870-889C= XP_005266489.1:n.1870-889C=
XM_006719837.2:c.2074C= XP_006719900.1:p.His692=
XM_006719838.1:c.-15C= XP_006719901.1:n.-15C=
XM_006719839.1:c.-15C= XP_006719902.1:n.-15C=
XM_011535117.1:c.2074C= XP_011533419.1:p.His692=
XM_011535118.1:c.2170C= XP_011533420.1:p.His724=
XM_011535119.1:c.2170C= XP_011533421.1:p.His724=
XM_011535120.1:c.1756C= XP_011533422.1:p.His586=
XM_011535121.1:c.2170C= XP_011533423.1:p.His724=
XM_011535122.1:c.838C= XP_011533424.1:p.His280=
XR_941601.1:n.2389C=
XR_941602.1:n.2389C=
XR_941603.1:n.2389C=
XR_941604.1:n.2389C=
NM_001330578.1:c.2122-889C= NP_001317507.1:n.2122-889C=
NM_001330579.1:c.1918C= NP_001317508.1:p.His640=
XM_005266424.4:c.2074C= XP_005266481.1:p.His692=
XM_005266430.4:c.2170C= XP_005266487.1:p.His724=
XM_005266431.4:c.2134C= XP_005266488.1:p.His712=
XM_006719837.3:c.2074C= XP_006719900.1:p.His692=
XM_011535117.3:c.2074C= XP_011533419.1:p.His692=
XM_017020627.1:c.2074C= XP_016876116.1:p.His692=
NM_000053.4:c.2170C= MANE Select NP_000044.2:p.His724=
NM_001005918.3:c.1870-889C= NP_001005918.1:n.1870-889C=
NM_001330579.2:c.1918C= NP_001317508.1:p.His640=
NM_001243182.2:c.1837C= NP_001230111.1:p.His613=
NM_001330578.2:c.2122-889C= NP_001317507.1:n.2122-889C=