Canonical Allele Identifier: CA274170
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 188947
dbSNP Id: rs786204578

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51935666G>A , CM000675.2:g.51935666G>A GRCh38
NC_000013.10:g.52509802G>A , CM000675.1:g.52509802G>A GRCh37
NC_000013.9:g.51407803G>A NCBI36
NG_008806.1:g.80829C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*1701C>T ENSP00000489512.2:n.*1701C>T
ENST00000673864.2:c.*2795C>T ENSP00000501045.2:n.*2795C>T
ENST00000674147.2:c.3430C>T ENSP00000500964.2:p.Gln1144Ter
ENST00000242839.10:c.4051C>T MANE Select ENSP00000242839.5:p.Gln1351Ter
ENST00000344297.9:c.3430C>T ENSP00000342559.5:p.Gln1144Ter
ENST00000400366.6:c.3718C>T ENSP00000383217.3:p.Gln1240Ter
ENST00000448424.7:c.3799C>T ENSP00000416738.3:p.Gln1267Ter
ENST00000673696.1:n.1374C>T
ENST00000673772.1:c.3817C>T ENSP00000501168.1:p.Gln1273Ter
ENST00000673867.1:n.4190C>T
ENST00000673923.1:n.917C>T
ENST00000674147.1:c.2986C>T ENSP00000500964.1:p.Gln996Ter
ENST00000242839.8:c.4051C>T ENSP00000242839.4:p.Gln1351Ter
ENST00000344297.8:c.3430C>T ENSP00000342559.5:p.Gln1144Ter
ENST00000400366.5:c.3718C>T ENSP00000383217.3:p.Gln1240Ter
ENST00000400370.8:c.2761C>T ENSP00000383221.3:p.Gln921Ter
ENST00000418097.7:c.3856C>T ENSP00000393343.2:p.Gln1286Ter
ENST00000448424.6:c.3817C>T ENSP00000416738.2:p.Gln1273Ter
ENST00000634296.1:c.1829C>T
ENST00000634308.1:c.*1152C>T ENSP00000489234.1:n.*1152C>T
ENST00000634620.1:n.4795C>T
ENST00000634810.1:n.3396C>T
ENST00000634844.1:c.3907C>T ENSP00000489398.1:p.Gln1303Ter
NM_000053.3:c.4051C>T NP_000044.2:p.Gln1351Ter
NM_001005918.2:c.3430C>T NP_001005918.1:p.Gln1144Ter
NM_001243182.1:c.3718C>T NP_001230111.1:p.Gln1240Ter
XM_005266423.2:c.3955C>T XP_005266480.1:p.Gln1319Ter
XM_005266424.3:c.3955C>T XP_005266481.1:p.Gln1319Ter
XM_005266427.2:c.3817C>T XP_005266484.1:p.Gln1273Ter
XM_005266428.1:c.3799C>T XP_005266485.1:p.Gln1267Ter
XM_005266430.3:c.4051C>T XP_005266487.1:p.Gln1351Ter
XM_005266431.2:c.4015C>T XP_005266488.1:p.Gln1339Ter
XM_005266432.2:c.3565C>T XP_005266489.1:p.Gln1189Ter
XM_006719837.2:c.3955C>T XP_006719900.1:p.Gln1319Ter
XM_006719838.1:c.1867C>T XP_006719901.1:p.Gln623Ter
XM_006719839.1:c.1684C>T XP_006719902.1:p.Gln562Ter
XM_011535117.1:c.3955C>T XP_011533419.1:p.Gln1319Ter
XM_011535118.1:c.3916C>T XP_011533420.1:p.Gln1306Ter
XM_011535119.1:c.3868C>T XP_011533421.1:p.Gln1290Ter
XM_011535120.1:c.3637C>T XP_011533422.1:p.Gln1213Ter
XM_011535121.1:c.3538C>T XP_011533423.1:p.Gln1180Ter
XM_011535122.1:c.2719C>T XP_011533424.1:p.Gln907Ter
XR_941601.1:n.4270C>T
XR_941602.1:n.4270C>T
XR_941603.1:n.4270C>T
XR_941604.1:n.4270C>T
NM_001330578.1:c.3817C>T NP_001317507.1:p.Gln1273Ter
NM_001330579.1:c.3799C>T NP_001317508.1:p.Gln1267Ter
XM_005266424.4:c.3955C>T XP_005266481.1:p.Gln1319Ter
XM_005266430.4:c.4051C>T XP_005266487.1:p.Gln1351Ter
XM_005266431.4:c.4015C>T XP_005266488.1:p.Gln1339Ter
XM_006719837.3:c.3955C>T XP_006719900.1:p.Gln1319Ter
XM_011535117.3:c.3955C>T XP_011533419.1:p.Gln1319Ter
XM_017020627.1:c.3955C>T XP_016876116.1:p.Gln1319Ter
NM_000053.4:c.4051C>T MANE Select NP_000044.2:p.Gln1351Ter
NM_001005918.3:c.3430C>T NP_001005918.1:p.Gln1144Ter
NM_001330579.2:c.3799C>T NP_001317508.1:p.Gln1267Ter
NM_001243182.2:c.3718C>T NP_001230111.1:p.Gln1240Ter
NM_001330578.2:c.3817C>T NP_001317507.1:p.Gln1273Ter