Canonical Allele Identifier: CA2091550042
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51958426A= , CM000675.2:g.51958426A= GRCh38
NC_000013.10:g.52532562A= , CM000675.1:g.52532562A= GRCh37
NC_000013.9:g.51430563A= NCBI36
NG_008806.1:g.58069T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*73T= ENSP00000489512.2:n.*73T=
ENST00000673864.2:c.*984T= ENSP00000501045.2:n.*984T=
ENST00000674147.2:c.1870-819T= ENSP00000500964.2:n.1870-819T=
ENST00000242839.10:c.2240T= MANE Select ENSP00000242839.5:p.Ile747=
ENST00000344297.9:c.1870-819T= ENSP00000342559.5:n.1870-819T=
ENST00000400366.6:c.1907T= ENSP00000383217.3:p.Ile636=
ENST00000448424.7:c.1988T= ENSP00000416738.3:p.Ile663=
ENST00000673772.1:c.2122-819T= ENSP00000501168.1:n.2122-819T=
ENST00000674147.1:c.1426-819T= ENSP00000500964.1:n.1426-819T=
ENST00000242839.8:c.2240T= ENSP00000242839.4:p.Ile747=
ENST00000344297.8:c.1870-819T= ENSP00000342559.5:n.1870-819T=
ENST00000400366.5:c.1907T= ENSP00000383217.3:p.Ile636=
ENST00000400370.8:c.1286-8265T= ENSP00000383221.3:n.1286-8265T=
ENST00000418097.7:c.2240T= ENSP00000393343.2:p.Ile747=
ENST00000448424.6:c.2122-819T= ENSP00000416738.2:n.2122-819T=
ENST00000482841.6:n.1783T=
ENST00000634296.1:c.201T=
ENST00000634308.1:c.2122-819T= ENSP00000489234.1:n.2122-819T=
ENST00000634620.1:n.2335T=
ENST00000634810.1:n.1585T=
ENST00000634844.1:c.2122-26T= ENSP00000489398.1:n.2122-26T=
ENST00000635406.1:n.212-11948T=
NM_000053.3:c.2240T= NP_000044.2:p.Ile747=
NM_001005918.2:c.1870-819T= NP_001005918.1:n.1870-819T=
NM_001243182.1:c.1907T= NP_001230111.1:p.Ile636=
XM_005266423.2:c.2144T= XP_005266480.1:p.Ile715=
XM_005266424.3:c.2144T= XP_005266481.1:p.Ile715=
XM_005266427.2:c.2122-819T= XP_005266484.1:n.2122-819T=
XM_005266428.1:c.1988T= XP_005266485.1:p.Ile663=
XM_005266430.3:c.2240T= XP_005266487.1:p.Ile747=
XM_005266431.2:c.2204T= XP_005266488.1:p.Ile735=
XM_005266432.2:c.1870-819T= XP_005266489.1:n.1870-819T=
XM_006719837.2:c.2144T= XP_006719900.1:p.Ile715=
XM_006719838.1:c.56T= XP_006719901.1:p.Ile19=
XM_006719839.1:c.56T= XP_006719902.1:p.Ile19=
XM_011535117.1:c.2144T= XP_011533419.1:p.Ile715=
XM_011535118.1:c.2240T= XP_011533420.1:p.Ile747=
XM_011535119.1:c.2240T= XP_011533421.1:p.Ile747=
XM_011535120.1:c.1826T= XP_011533422.1:p.Ile609=
XM_011535121.1:c.2240T= XP_011533423.1:p.Ile747=
XM_011535122.1:c.908T= XP_011533424.1:p.Ile303=
XR_941601.1:n.2459T=
XR_941602.1:n.2459T=
XR_941603.1:n.2459T=
XR_941604.1:n.2459T=
NM_001330578.1:c.2122-819T= NP_001317507.1:n.2122-819T=
NM_001330579.1:c.1988T= NP_001317508.1:p.Ile663=
XM_005266424.4:c.2144T= XP_005266481.1:p.Ile715=
XM_005266430.4:c.2240T= XP_005266487.1:p.Ile747=
XM_005266431.4:c.2204T= XP_005266488.1:p.Ile735=
XM_006719837.3:c.2144T= XP_006719900.1:p.Ile715=
XM_011535117.3:c.2144T= XP_011533419.1:p.Ile715=
XM_017020627.1:c.2144T= XP_016876116.1:p.Ile715=
NM_000053.4:c.2240T= MANE Select NP_000044.2:p.Ile747=
NM_001005918.3:c.1870-819T= NP_001005918.1:n.1870-819T=
NM_001330579.2:c.1988T= NP_001317508.1:p.Ile663=
NM_001243182.2:c.1907T= NP_001230111.1:p.Ile636=
NM_001330578.2:c.2122-819T= NP_001317507.1:n.2122-819T=