Canonical Allele Identifier: CA483894982
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1615701
ClinVar RCV Id: RCV002074721
dbSNP Id: rs1477822616

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946409G>A , CM000675.2:g.51946409G>A GRCh38
NC_000013.10:g.52520545G>A , CM000675.1:g.52520545G>A GRCh37
NC_000013.9:g.51418546G>A NCBI36
NG_008806.1:g.70086C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*768C>T ENSP00000489512.2:n.*768C>T
ENST00000673864.2:c.*1679C>T ENSP00000501045.2:n.*1679C>T
ENST00000674147.2:c.2314C>T ENSP00000500964.2:p.Leu772=
ENST00000242839.10:c.2935C>T MANE Select ENSP00000242839.5:p.Leu979=
ENST00000344297.9:c.2314C>T ENSP00000342559.5:p.Leu772=
ENST00000400366.6:c.2602C>T ENSP00000383217.3:p.Leu868=
ENST00000448424.7:c.2683C>T ENSP00000416738.3:p.Leu895=
ENST00000673772.1:c.2701C>T ENSP00000501168.1:p.Leu901=
ENST00000673867.1:n.1082C>T
ENST00000674126.1:n.3298C>T
ENST00000674147.1:c.1870C>T ENSP00000500964.1:p.Leu624=
ENST00000242839.8:c.2935C>T ENSP00000242839.4:p.Leu979=
ENST00000344297.8:c.2314C>T ENSP00000342559.5:p.Leu772=
ENST00000400366.5:c.2602C>T ENSP00000383217.3:p.Leu868=
ENST00000400370.8:c.1645C>T ENSP00000383221.3:p.Leu549=
ENST00000418097.7:c.2866-2118C>T ENSP00000393343.2:n.2866-2118C>T
ENST00000448424.6:c.2701C>T ENSP00000416738.2:p.Leu901=
ENST00000466629.1:n.155C>T
ENST00000634296.1:c.896C>T
ENST00000634308.1:c.*36C>T ENSP00000489234.1:n.*36C>T
ENST00000634620.1:n.3679C>T
ENST00000634810.1:n.2280C>T
ENST00000634844.1:c.2791C>T ENSP00000489398.1:p.Leu931=
ENST00000635406.1:n.281C>T
NM_000053.3:c.2935C>T NP_000044.2:p.Leu979=
NM_001005918.2:c.2314C>T NP_001005918.1:p.Leu772=
NM_001243182.1:c.2602C>T NP_001230111.1:p.Leu868=
XM_005266423.2:c.2839C>T XP_005266480.1:p.Leu947=
XM_005266424.3:c.2839C>T XP_005266481.1:p.Leu947=
XM_005266427.2:c.2701C>T XP_005266484.1:p.Leu901=
XM_005266428.1:c.2683C>T XP_005266485.1:p.Leu895=
XM_005266430.3:c.2935C>T XP_005266487.1:p.Leu979=
XM_005266431.2:c.2899C>T XP_005266488.1:p.Leu967=
XM_005266432.2:c.2449C>T XP_005266489.1:p.Leu817=
XM_006719837.2:c.2839C>T XP_006719900.1:p.Leu947=
XM_006719838.1:c.751C>T XP_006719901.1:p.Leu251=
XM_006719839.1:c.751C>T XP_006719902.1:p.Leu251=
XM_011535117.1:c.2839C>T XP_011533419.1:p.Leu947=
XM_011535118.1:c.2800C>T XP_011533420.1:p.Leu934=
XM_011535119.1:c.2935C>T XP_011533421.1:p.Leu979=
XM_011535120.1:c.2521C>T XP_011533422.1:p.Leu841=
XM_011535121.1:c.2730+3598C>T XP_011533423.1:n.2730+3598C>T
XM_011535122.1:c.1603C>T XP_011533424.1:p.Leu535=
XR_941601.1:n.3154C>T
XR_941602.1:n.3154C>T
XR_941603.1:n.3154C>T
XR_941604.1:n.3154C>T
NM_001330578.1:c.2701C>T NP_001317507.1:p.Leu901=
NM_001330579.1:c.2683C>T NP_001317508.1:p.Leu895=
XM_005266424.4:c.2839C>T XP_005266481.1:p.Leu947=
XM_005266430.4:c.2935C>T XP_005266487.1:p.Leu979=
XM_005266431.4:c.2899C>T XP_005266488.1:p.Leu967=
XM_006719837.3:c.2839C>T XP_006719900.1:p.Leu947=
XM_011535117.3:c.2839C>T XP_011533419.1:p.Leu947=
XM_017020627.1:c.2839C>T XP_016876116.1:p.Leu947=
NM_000053.4:c.2935C>T MANE Select NP_000044.2:p.Leu979=
NM_001005918.3:c.2314C>T NP_001005918.1:p.Leu772=
NM_001330579.2:c.2683C>T NP_001317508.1:p.Leu895=
NM_001243182.2:c.2602C>T NP_001230111.1:p.Leu868=
NM_001330578.2:c.2701C>T NP_001317507.1:p.Leu901=