Canonical Allele Identifier: CA260132
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 35711
dbSNP Id: rs193922104

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946391A>G , CM000675.2:g.51946391A>G GRCh38
NC_000013.10:g.52520527A>G , CM000675.1:g.52520527A>G GRCh37
NC_000013.9:g.51418528A>G NCBI36
NG_008806.1:g.70104T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*786T>C ENSP00000489512.2:n.*786T>C
ENST00000673864.2:c.*1697T>C ENSP00000501045.2:n.*1697T>C
ENST00000674147.2:c.2332T>C ENSP00000500964.2:p.Cys778Arg
ENST00000242839.10:c.2953T>C MANE Select ENSP00000242839.5:p.Cys985Arg
ENST00000344297.9:c.2332T>C ENSP00000342559.5:p.Cys778Arg
ENST00000400366.6:c.2620T>C ENSP00000383217.3:p.Cys874Arg
ENST00000448424.7:c.2701T>C ENSP00000416738.3:p.Cys901Arg
ENST00000673772.1:c.2719T>C ENSP00000501168.1:p.Cys907Arg
ENST00000673867.1:n.1100T>C
ENST00000674126.1:n.3316T>C
ENST00000674147.1:c.1888T>C ENSP00000500964.1:p.Cys630Arg
ENST00000242839.8:c.2953T>C ENSP00000242839.4:p.Cys985Arg
ENST00000344297.8:c.2332T>C ENSP00000342559.5:p.Cys778Arg
ENST00000400366.5:c.2620T>C ENSP00000383217.3:p.Cys874Arg
ENST00000400370.8:c.1663T>C ENSP00000383221.3:p.Cys555Arg
ENST00000418097.7:c.2866-2100T>C ENSP00000393343.2:n.2866-2100T>C
ENST00000448424.6:c.2719T>C ENSP00000416738.2:p.Cys907Arg
ENST00000466629.1:n.173T>C
ENST00000634296.1:c.914T>C
ENST00000634308.1:c.*54T>C ENSP00000489234.1:n.*54T>C
ENST00000634620.1:n.3697T>C
ENST00000634810.1:n.2298T>C
ENST00000634844.1:c.2809T>C ENSP00000489398.1:p.Cys937Arg
ENST00000635406.1:n.299T>C
NM_000053.3:c.2953T>C NP_000044.2:p.Cys985Arg
NM_001005918.2:c.2332T>C NP_001005918.1:p.Cys778Arg
NM_001243182.1:c.2620T>C NP_001230111.1:p.Cys874Arg
XM_005266423.2:c.2857T>C XP_005266480.1:p.Cys953Arg
XM_005266424.3:c.2857T>C XP_005266481.1:p.Cys953Arg
XM_005266427.2:c.2719T>C XP_005266484.1:p.Cys907Arg
XM_005266428.1:c.2701T>C XP_005266485.1:p.Cys901Arg
XM_005266430.3:c.2953T>C XP_005266487.1:p.Cys985Arg
XM_005266431.2:c.2917T>C XP_005266488.1:p.Cys973Arg
XM_005266432.2:c.2467T>C XP_005266489.1:p.Cys823Arg
XM_006719837.2:c.2857T>C XP_006719900.1:p.Cys953Arg
XM_006719838.1:c.769T>C XP_006719901.1:p.Cys257Arg
XM_006719839.1:c.769T>C XP_006719902.1:p.Cys257Arg
XM_011535117.1:c.2857T>C XP_011533419.1:p.Cys953Arg
XM_011535118.1:c.2818T>C XP_011533420.1:p.Cys940Arg
XM_011535119.1:c.2953T>C XP_011533421.1:p.Cys985Arg
XM_011535120.1:c.2539T>C XP_011533422.1:p.Cys847Arg
XM_011535121.1:c.2730+3616T>C XP_011533423.1:n.2730+3616T>C
XM_011535122.1:c.1621T>C XP_011533424.1:p.Cys541Arg
XR_941601.1:n.3172T>C
XR_941602.1:n.3172T>C
XR_941603.1:n.3172T>C
XR_941604.1:n.3172T>C
NM_001330578.1:c.2719T>C NP_001317507.1:p.Cys907Arg
NM_001330579.1:c.2701T>C NP_001317508.1:p.Cys901Arg
XM_005266424.4:c.2857T>C XP_005266481.1:p.Cys953Arg
XM_005266430.4:c.2953T>C XP_005266487.1:p.Cys985Arg
XM_005266431.4:c.2917T>C XP_005266488.1:p.Cys973Arg
XM_006719837.3:c.2857T>C XP_006719900.1:p.Cys953Arg
XM_011535117.3:c.2857T>C XP_011533419.1:p.Cys953Arg
XM_017020627.1:c.2857T>C XP_016876116.1:p.Cys953Arg
NM_000053.4:c.2953T>C MANE Select NP_000044.2:p.Cys985Arg
NM_001005918.3:c.2332T>C NP_001005918.1:p.Cys778Arg
NM_001330579.2:c.2701T>C NP_001317508.1:p.Cys901Arg
NM_001243182.2:c.2620T>C NP_001230111.1:p.Cys874Arg
NM_001330578.2:c.2719T>C NP_001317507.1:p.Cys907Arg