Canonical Allele Identifier: CA2091549799
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51958333C= , CM000675.2:g.51958333C= GRCh38
NC_000013.10:g.52532469C= , CM000675.1:g.52532469C= GRCh37
NC_000013.9:g.51430470C= NCBI36
NG_008806.1:g.58162G=

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*166G= ENSP00000489512.2:n.*166G=
ENST00000673864.2:c.*1077G= ENSP00000501045.2:n.*1077G=
ENST00000674147.2:c.1870-726G= ENSP00000500964.2:n.1870-726G=
ENST00000242839.10:c.2333G= MANE Select ENSP00000242839.5:p.Arg778=
ENST00000344297.9:c.1870-726G= ENSP00000342559.5:n.1870-726G=
ENST00000400366.6:c.2000G= ENSP00000383217.3:p.Arg667=
ENST00000448424.7:c.2081G= ENSP00000416738.3:p.Arg694=
ENST00000673772.1:c.2122-726G= ENSP00000501168.1:n.2122-726G=
ENST00000674147.1:c.1426-726G= ENSP00000500964.1:n.1426-726G=
ENST00000242839.8:c.2333G= ENSP00000242839.4:p.Arg778=
ENST00000344297.8:c.1870-726G= ENSP00000342559.5:n.1870-726G=
ENST00000400366.5:c.2000G= ENSP00000383217.3:p.Arg667=
ENST00000400370.8:c.1286-8172G= ENSP00000383221.3:n.1286-8172G=
ENST00000418097.7:c.2333G= ENSP00000393343.2:p.Arg778=
ENST00000448424.6:c.2122-726G= ENSP00000416738.2:n.2122-726G=
ENST00000634296.1:c.294G=
ENST00000634308.1:c.2122-726G= ENSP00000489234.1:n.2122-726G=
ENST00000634620.1:n.2428G=
ENST00000634810.1:n.1678G=
ENST00000634844.1:c.2189G= ENSP00000489398.1:p.Arg730=
ENST00000635406.1:n.212-11855G=
NM_000053.3:c.2333G= NP_000044.2:p.Arg778=
NM_001005918.2:c.1870-726G= NP_001005918.1:n.1870-726G=
NM_001243182.1:c.2000G= NP_001230111.1:p.Arg667=
XM_005266423.2:c.2237G= XP_005266480.1:p.Arg746=
XM_005266424.3:c.2237G= XP_005266481.1:p.Arg746=
XM_005266427.2:c.2122-726G= XP_005266484.1:n.2122-726G=
XM_005266428.1:c.2081G= XP_005266485.1:p.Arg694=
XM_005266430.3:c.2333G= XP_005266487.1:p.Arg778=
XM_005266431.2:c.2297G= XP_005266488.1:p.Arg766=
XM_005266432.2:c.1870-726G= XP_005266489.1:n.1870-726G=
XM_006719837.2:c.2237G= XP_006719900.1:p.Arg746=
XM_006719838.1:c.149G= XP_006719901.1:p.Arg50=
XM_006719839.1:c.149G= XP_006719902.1:p.Arg50=
XM_011535117.1:c.2237G= XP_011533419.1:p.Arg746=
XM_011535118.1:c.2333G= XP_011533420.1:p.Arg778=
XM_011535119.1:c.2333G= XP_011533421.1:p.Arg778=
XM_011535120.1:c.1919G= XP_011533422.1:p.Arg640=
XM_011535121.1:c.2333G= XP_011533423.1:p.Arg778=
XM_011535122.1:c.1001G= XP_011533424.1:p.Arg334=
XR_941601.1:n.2552G=
XR_941602.1:n.2552G=
XR_941603.1:n.2552G=
XR_941604.1:n.2552G=
NM_001330578.1:c.2122-726G= NP_001317507.1:n.2122-726G=
NM_001330579.1:c.2081G= NP_001317508.1:p.Arg694=
XM_005266424.4:c.2237G= XP_005266481.1:p.Arg746=
XM_005266430.4:c.2333G= XP_005266487.1:p.Arg778=
XM_005266431.4:c.2297G= XP_005266488.1:p.Arg766=
XM_006719837.3:c.2237G= XP_006719900.1:p.Arg746=
XM_011535117.3:c.2237G= XP_011533419.1:p.Arg746=
XM_017020627.1:c.2237G= XP_016876116.1:p.Arg746=
NM_000053.4:c.2333G= MANE Select NP_000044.2:p.Arg778=
NM_001005918.3:c.1870-726G= NP_001005918.1:n.1870-726G=
NM_001330579.2:c.2081G= NP_001317508.1:p.Arg694=
NM_001243182.2:c.2000G= NP_001230111.1:p.Arg667=
NM_001330578.2:c.2122-726G= NP_001317507.1:n.2122-726G=