Canonical Allele Identifier: CA274387
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 189108
ClinVar RCV Id: RCV000169520
dbSNP Id: rs748924063

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51941086dup , CM000675.2:g.51941086dup GRCh38
NC_000013.10:g.52515222dup , CM000675.1:g.52515222dup GRCh37
NC_000013.9:g.51413223dup NCBI36
NG_008806.1:g.75410dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*1202dup ENSP00000489512.2:n.*1202dup
ENST00000673864.2:c.*2296dup ENSP00000501045.2:n.*2296dup
ENST00000674147.2:c.2931dup ENSP00000500964.2:p.Asp978Ter
ENST00000242839.10:c.3552dup MANE Select ENSP00000242839.5:p.Asp1185Ter
ENST00000344297.9:c.2931dup ENSP00000342559.5:p.Asp978Ter
ENST00000400366.6:c.3219dup ENSP00000383217.3:p.Asp1074Ter
ENST00000448424.7:c.3300dup ENSP00000416738.3:p.Asp1101Ter
ENST00000673772.1:c.3318dup ENSP00000501168.1:p.Asp1107Ter
ENST00000673867.1:n.3691dup
ENST00000674126.1:n.3915dup
ENST00000674147.1:c.2487dup ENSP00000500964.1:p.Asp830Ter
ENST00000242839.8:c.3552dup ENSP00000242839.4:p.Asp1185Ter
ENST00000344297.8:c.2931dup ENSP00000342559.5:p.Asp978Ter
ENST00000400366.5:c.3219dup ENSP00000383217.3:p.Asp1074Ter
ENST00000400370.8:c.2262dup ENSP00000383221.3:p.Asp755Ter
ENST00000418097.7:c.3357dup ENSP00000393343.2:p.Asp1120Ter
ENST00000448424.6:c.3318dup ENSP00000416738.2:p.Asp1107Ter
ENST00000634296.1:c.1330dup
ENST00000634308.1:c.*653dup ENSP00000489234.1:n.*653dup
ENST00000634620.1:n.4296dup
ENST00000634810.1:n.2897dup
ENST00000634844.1:c.3408dup ENSP00000489398.1:p.Asp1137Ter
NM_000053.3:c.3552dup NP_000044.2:p.Asp1185Ter
NM_001005918.2:c.2931dup NP_001005918.1:p.Asp978Ter
NM_001243182.1:c.3219dup NP_001230111.1:p.Asp1074Ter
XM_005266423.2:c.3456dup XP_005266480.1:p.Asp1153Ter
XM_005266424.3:c.3456dup XP_005266481.1:p.Asp1153Ter
XM_005266427.2:c.3318dup XP_005266484.1:p.Asp1107Ter
XM_005266428.1:c.3300dup XP_005266485.1:p.Asp1101Ter
XM_005266430.3:c.3552dup XP_005266487.1:p.Asp1185Ter
XM_005266431.2:c.3516dup XP_005266488.1:p.Asp1173Ter
XM_005266432.2:c.3066dup XP_005266489.1:p.Asp1023Ter
XM_006719837.2:c.3456dup XP_006719900.1:p.Asp1153Ter
XM_006719838.1:c.1368dup XP_006719901.1:p.Asp457Ter
XM_006719839.1:c.1185dup XP_006719902.1:p.Asp396Ter
XM_011535117.1:c.3456dup XP_011533419.1:p.Asp1153Ter
XM_011535118.1:c.3417dup XP_011533420.1:p.Asp1140Ter
XM_011535119.1:c.3369dup XP_011533421.1:p.Asp1124Ter
XM_011535120.1:c.3138dup XP_011533422.1:p.Asp1047Ter
XM_011535121.1:c.3039dup XP_011533423.1:p.Asp1014Ter
XM_011535122.1:c.2220dup XP_011533424.1:p.Asp741Ter
XR_941601.1:n.3771dup
XR_941602.1:n.3771dup
XR_941603.1:n.3771dup
XR_941604.1:n.3771dup
NM_001330578.1:c.3318dup NP_001317507.1:p.Asp1107Ter
NM_001330579.1:c.3300dup NP_001317508.1:p.Asp1101Ter
XM_005266424.4:c.3456dup XP_005266481.1:p.Asp1153Ter
XM_005266430.4:c.3552dup XP_005266487.1:p.Asp1185Ter
XM_005266431.4:c.3516dup XP_005266488.1:p.Asp1173Ter
XM_006719837.3:c.3456dup XP_006719900.1:p.Asp1153Ter
XM_011535117.3:c.3456dup XP_011533419.1:p.Asp1153Ter
XM_017020627.1:c.3456dup XP_016876116.1:p.Asp1153Ter
NM_000053.4:c.3552dup MANE Select NP_000044.2:p.Asp1185Ter
NM_001005918.3:c.2931dup NP_001005918.1:p.Asp978Ter
NM_001330579.2:c.3300dup NP_001317508.1:p.Asp1101Ter
NM_001243182.2:c.3219dup NP_001230111.1:p.Asp1074Ter
NM_001330578.2:c.3318dup NP_001317507.1:p.Asp1107Ter