Canonical Allele Identifier: CA2091549831
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51958340G= , CM000675.2:g.51958340G= GRCh38
NC_000013.10:g.52532476G= , CM000675.1:g.52532476G= GRCh37
NC_000013.9:g.51430477G= NCBI36
NG_008806.1:g.58155C=

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*159C= ENSP00000489512.2:n.*159C=
ENST00000673864.2:c.*1070C= ENSP00000501045.2:n.*1070C=
ENST00000674147.2:c.1870-733C= ENSP00000500964.2:n.1870-733C=
ENST00000242839.10:c.2326C= MANE Select ENSP00000242839.5:p.Leu776=
ENST00000344297.9:c.1870-733C= ENSP00000342559.5:n.1870-733C=
ENST00000400366.6:c.1993C= ENSP00000383217.3:p.Leu665=
ENST00000448424.7:c.2074C= ENSP00000416738.3:p.Leu692=
ENST00000673772.1:c.2122-733C= ENSP00000501168.1:n.2122-733C=
ENST00000674147.1:c.1426-733C= ENSP00000500964.1:n.1426-733C=
ENST00000242839.8:c.2326C= ENSP00000242839.4:p.Leu776=
ENST00000344297.8:c.1870-733C= ENSP00000342559.5:n.1870-733C=
ENST00000400366.5:c.1993C= ENSP00000383217.3:p.Leu665=
ENST00000400370.8:c.1286-8179C= ENSP00000383221.3:n.1286-8179C=
ENST00000418097.7:c.2326C= ENSP00000393343.2:p.Leu776=
ENST00000448424.6:c.2122-733C= ENSP00000416738.2:n.2122-733C=
ENST00000634296.1:c.287C=
ENST00000634308.1:c.2122-733C= ENSP00000489234.1:n.2122-733C=
ENST00000634620.1:n.2421C=
ENST00000634810.1:n.1671C=
ENST00000634844.1:c.2182C= ENSP00000489398.1:p.Leu728=
ENST00000635406.1:n.212-11862C=
NM_000053.3:c.2326C= NP_000044.2:p.Leu776=
NM_001005918.2:c.1870-733C= NP_001005918.1:n.1870-733C=
NM_001243182.1:c.1993C= NP_001230111.1:p.Leu665=
XM_005266423.2:c.2230C= XP_005266480.1:p.Leu744=
XM_005266424.3:c.2230C= XP_005266481.1:p.Leu744=
XM_005266427.2:c.2122-733C= XP_005266484.1:n.2122-733C=
XM_005266428.1:c.2074C= XP_005266485.1:p.Leu692=
XM_005266430.3:c.2326C= XP_005266487.1:p.Leu776=
XM_005266431.2:c.2290C= XP_005266488.1:p.Leu764=
XM_005266432.2:c.1870-733C= XP_005266489.1:n.1870-733C=
XM_006719837.2:c.2230C= XP_006719900.1:p.Leu744=
XM_006719838.1:c.142C= XP_006719901.1:p.Leu48=
XM_006719839.1:c.142C= XP_006719902.1:p.Leu48=
XM_011535117.1:c.2230C= XP_011533419.1:p.Leu744=
XM_011535118.1:c.2326C= XP_011533420.1:p.Leu776=
XM_011535119.1:c.2326C= XP_011533421.1:p.Leu776=
XM_011535120.1:c.1912C= XP_011533422.1:p.Leu638=
XM_011535121.1:c.2326C= XP_011533423.1:p.Leu776=
XM_011535122.1:c.994C= XP_011533424.1:p.Leu332=
XR_941601.1:n.2545C=
XR_941602.1:n.2545C=
XR_941603.1:n.2545C=
XR_941604.1:n.2545C=
NM_001330578.1:c.2122-733C= NP_001317507.1:n.2122-733C=
NM_001330579.1:c.2074C= NP_001317508.1:p.Leu692=
XM_005266424.4:c.2230C= XP_005266481.1:p.Leu744=
XM_005266430.4:c.2326C= XP_005266487.1:p.Leu776=
XM_005266431.4:c.2290C= XP_005266488.1:p.Leu764=
XM_006719837.3:c.2230C= XP_006719900.1:p.Leu744=
XM_011535117.3:c.2230C= XP_011533419.1:p.Leu744=
XM_017020627.1:c.2230C= XP_016876116.1:p.Leu744=
NM_000053.4:c.2326C= MANE Select NP_000044.2:p.Leu776=
NM_001005918.3:c.1870-733C= NP_001005918.1:n.1870-733C=
NM_001330579.2:c.2074C= NP_001317508.1:p.Leu692=
NM_001243182.2:c.1993C= NP_001230111.1:p.Leu665=
NM_001330578.2:c.2122-733C= NP_001317507.1:n.2122-733C=