Canonical Allele Identifier: CA250085201
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2417163
ClinVar RCV Id: RCV003111991
dbSNP Id: rs935426164

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51950074G>A , CM000675.2:g.51950074G>A GRCh38
NC_000013.10:g.52524210G>A , CM000675.1:g.52524210G>A GRCh37
NC_000013.9:g.51422211G>A NCBI36
NG_008806.1:g.66421C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*496C>T ENSP00000489512.2:n.*496C>T
ENST00000673864.2:c.*1407C>T ENSP00000501045.2:n.*1407C>T
ENST00000674147.2:c.2177C>T ENSP00000500964.2:p.Thr726Ile
ENST00000242839.10:c.2663C>T MANE Select ENSP00000242839.5:p.Thr888Ile
ENST00000344297.9:c.2177C>T ENSP00000342559.5:p.Thr726Ile
ENST00000400366.6:c.2330C>T ENSP00000383217.3:p.Thr777Ile
ENST00000448424.7:c.2411C>T ENSP00000416738.3:p.Thr804Ile
ENST00000673772.1:c.2429C>T ENSP00000501168.1:p.Thr810Ile
ENST00000674147.1:c.1733C>T ENSP00000500964.1:p.Thr578Ile
ENST00000242839.8:c.2663C>T ENSP00000242839.4:p.Thr888Ile
ENST00000344297.8:c.2177C>T ENSP00000342559.5:p.Thr726Ile
ENST00000400366.5:c.2330C>T ENSP00000383217.3:p.Thr777Ile
ENST00000400370.8:c.1373C>T ENSP00000383221.3:p.Thr458Ile
ENST00000418097.7:c.2663C>T ENSP00000393343.2:p.Thr888Ile
ENST00000448424.6:c.2429C>T ENSP00000416738.2:p.Thr810Ile
ENST00000634296.1:c.624C>T
ENST00000634308.1:c.2429C>T ENSP00000489234.1:p.Thr810Ile
ENST00000634620.1:n.3461C>T
ENST00000634810.1:n.2008C>T
ENST00000634844.1:c.2519C>T ENSP00000489398.1:p.Thr840Ile
ENST00000635406.1:n.212-3596C>T
NM_000053.3:c.2663C>T NP_000044.2:p.Thr888Ile
NM_001005918.2:c.2177C>T NP_001005918.1:p.Thr726Ile
NM_001243182.1:c.2330C>T NP_001230111.1:p.Thr777Ile
XM_005266423.2:c.2567C>T XP_005266480.1:p.Thr856Ile
XM_005266424.3:c.2567C>T XP_005266481.1:p.Thr856Ile
XM_005266427.2:c.2429C>T XP_005266484.1:p.Thr810Ile
XM_005266428.1:c.2411C>T XP_005266485.1:p.Thr804Ile
XM_005266430.3:c.2663C>T XP_005266487.1:p.Thr888Ile
XM_005266431.2:c.2627C>T XP_005266488.1:p.Thr876Ile
XM_005266432.2:c.2177C>T XP_005266489.1:p.Thr726Ile
XM_006719837.2:c.2567C>T XP_006719900.1:p.Thr856Ile
XM_006719838.1:c.479C>T XP_006719901.1:p.Thr160Ile
XM_006719839.1:c.479C>T XP_006719902.1:p.Thr160Ile
XM_011535117.1:c.2567C>T XP_011533419.1:p.Thr856Ile
XM_011535118.1:c.2663C>T XP_011533420.1:p.Thr888Ile
XM_011535119.1:c.2663C>T XP_011533421.1:p.Thr888Ile
XM_011535120.1:c.2249C>T XP_011533422.1:p.Thr750Ile
XM_011535121.1:c.2663C>T XP_011533423.1:p.Thr888Ile
XM_011535122.1:c.1331C>T XP_011533424.1:p.Thr444Ile
XR_941601.1:n.2882C>T
XR_941602.1:n.2882C>T
XR_941603.1:n.2882C>T
XR_941604.1:n.2882C>T
NM_001330578.1:c.2429C>T NP_001317507.1:p.Thr810Ile
NM_001330579.1:c.2411C>T NP_001317508.1:p.Thr804Ile
XM_005266424.4:c.2567C>T XP_005266481.1:p.Thr856Ile
XM_005266430.4:c.2663C>T XP_005266487.1:p.Thr888Ile
XM_005266431.4:c.2627C>T XP_005266488.1:p.Thr876Ile
XM_006719837.3:c.2567C>T XP_006719900.1:p.Thr856Ile
XM_011535117.3:c.2567C>T XP_011533419.1:p.Thr856Ile
XM_017020627.1:c.2567C>T XP_016876116.1:p.Thr856Ile
NM_000053.4:c.2663C>T MANE Select NP_000044.2:p.Thr888Ile
NM_001005918.3:c.2177C>T NP_001005918.1:p.Thr726Ile
NM_001330579.2:c.2411C>T NP_001317508.1:p.Thr804Ile
NM_001243182.2:c.2330C>T NP_001230111.1:p.Thr777Ile
NM_001330578.2:c.2429C>T NP_001317507.1:p.Thr810Ile