Canonical Allele Identifier: CA6988685
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 370151
dbSNP Id: rs778749563

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51941211C>G , CM000675.2:g.51941211C>G GRCh38
NC_000013.10:g.52515347C>G , CM000675.1:g.52515347C>G GRCh37
NC_000013.9:g.51413348C>G NCBI36
NG_008806.1:g.75284G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*1076G>C ENSP00000489512.2:n.*1076G>C
ENST00000673864.2:c.*2170G>C ENSP00000501045.2:n.*2170G>C
ENST00000674147.2:c.2805G>C ENSP00000500964.2:p.Gln935His
ENST00000242839.10:c.3426G>C MANE Select ENSP00000242839.5:p.Gln1142His
ENST00000344297.9:c.2805G>C ENSP00000342559.5:p.Gln935His
ENST00000400366.6:c.3093G>C ENSP00000383217.3:p.Gln1031His
ENST00000448424.7:c.3174G>C ENSP00000416738.3:p.Gln1058His
ENST00000673772.1:c.3192G>C ENSP00000501168.1:p.Gln1064His
ENST00000673867.1:n.3565G>C
ENST00000674126.1:n.3789G>C
ENST00000674147.1:c.2361G>C ENSP00000500964.1:p.Gln787His
ENST00000242839.8:c.3426G>C ENSP00000242839.4:p.Gln1142His
ENST00000344297.8:c.2805G>C ENSP00000342559.5:p.Gln935His
ENST00000400366.5:c.3093G>C ENSP00000383217.3:p.Gln1031His
ENST00000400370.8:c.2136G>C ENSP00000383221.3:p.Gln712His
ENST00000418097.7:c.3231G>C ENSP00000393343.2:p.Gln1077His
ENST00000448424.6:c.3192G>C ENSP00000416738.2:p.Gln1064His
ENST00000634296.1:c.1204G>C
ENST00000634308.1:c.*527G>C ENSP00000489234.1:n.*527G>C
ENST00000634620.1:n.4170G>C
ENST00000634810.1:n.2771G>C
ENST00000634844.1:c.3282G>C ENSP00000489398.1:p.Gln1094His
NM_000053.3:c.3426G>C NP_000044.2:p.Gln1142His
NM_001005918.2:c.2805G>C NP_001005918.1:p.Gln935His
NM_001243182.1:c.3093G>C NP_001230111.1:p.Gln1031His
XM_005266423.2:c.3330G>C XP_005266480.1:p.Gln1110His
XM_005266424.3:c.3330G>C XP_005266481.1:p.Gln1110His
XM_005266427.2:c.3192G>C XP_005266484.1:p.Gln1064His
XM_005266428.1:c.3174G>C XP_005266485.1:p.Gln1058His
XM_005266430.3:c.3426G>C XP_005266487.1:p.Gln1142His
XM_005266431.2:c.3390G>C XP_005266488.1:p.Gln1130His
XM_005266432.2:c.2940G>C XP_005266489.1:p.Gln980His
XM_006719837.2:c.3330G>C XP_006719900.1:p.Gln1110His
XM_006719838.1:c.1242G>C XP_006719901.1:p.Gln414His
XM_006719839.1:c.1059G>C XP_006719902.1:p.Gln353His
XM_011535117.1:c.3330G>C XP_011533419.1:p.Gln1110His
XM_011535118.1:c.3291G>C XP_011533420.1:p.Gln1097His
XM_011535119.1:c.3243G>C XP_011533421.1:p.Gln1081His
XM_011535120.1:c.3012G>C XP_011533422.1:p.Gln1004His
XM_011535121.1:c.2913G>C XP_011533423.1:p.Gln971His
XM_011535122.1:c.2094G>C XP_011533424.1:p.Gln698His
XR_941601.1:n.3645G>C
XR_941602.1:n.3645G>C
XR_941603.1:n.3645G>C
XR_941604.1:n.3645G>C
NM_001330578.1:c.3192G>C NP_001317507.1:p.Gln1064His
NM_001330579.1:c.3174G>C NP_001317508.1:p.Gln1058His
XM_005266424.4:c.3330G>C XP_005266481.1:p.Gln1110His
XM_005266430.4:c.3426G>C XP_005266487.1:p.Gln1142His
XM_005266431.4:c.3390G>C XP_005266488.1:p.Gln1130His
XM_006719837.3:c.3330G>C XP_006719900.1:p.Gln1110His
XM_011535117.3:c.3330G>C XP_011533419.1:p.Gln1110His
XM_017020627.1:c.3330G>C XP_016876116.1:p.Gln1110His
NM_000053.4:c.3426G>C MANE Select NP_000044.2:p.Gln1142His
NM_001005918.3:c.2805G>C NP_001005918.1:p.Gln935His
NM_001330579.2:c.3174G>C NP_001317508.1:p.Gln1058His
NM_001243182.2:c.3093G>C NP_001230111.1:p.Gln1031His
NM_001330578.2:c.3192G>C NP_001317507.1:p.Gln1064His