Canonical Allele Identifier: CA252895
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 3857
dbSNP Id: rs121907993

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51949772G>C , CM000675.2:g.51949772G>C GRCh38
NC_000013.10:g.52523908G>C , CM000675.1:g.52523908G>C GRCh37
NC_000013.9:g.51421909G>C NCBI36
NG_008806.1:g.66723C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*588C>G ENSP00000489512.2:n.*588C>G
ENST00000673864.2:c.*1499C>G ENSP00000501045.2:n.*1499C>G
ENST00000674147.2:c.2244+235C>G ENSP00000500964.2:n.2244+235C>G
ENST00000242839.10:c.2755C>G MANE Select ENSP00000242839.5:p.Arg919Gly
ENST00000344297.9:c.2244+235C>G ENSP00000342559.5:n.2244+235C>G
ENST00000400366.6:c.2422C>G ENSP00000383217.3:p.Arg808Gly
ENST00000448424.7:c.2503C>G ENSP00000416738.3:p.Arg835Gly
ENST00000673772.1:c.2521C>G ENSP00000501168.1:p.Arg841Gly
ENST00000674147.1:c.1800+235C>G ENSP00000500964.1:n.1800+235C>G
ENST00000242839.8:c.2755C>G ENSP00000242839.4:p.Arg919Gly
ENST00000344297.8:c.2244+235C>G ENSP00000342559.5:n.2244+235C>G
ENST00000400366.5:c.2422C>G ENSP00000383217.3:p.Arg808Gly
ENST00000400370.8:c.1465C>G ENSP00000383221.3:p.Arg489Gly
ENST00000418097.7:c.2755C>G ENSP00000393343.2:p.Arg919Gly
ENST00000448424.6:c.2521C>G ENSP00000416738.2:p.Arg841Gly
ENST00000634296.1:c.716C>G
ENST00000634308.1:c.2521C>G ENSP00000489234.1:p.Arg841Gly
ENST00000634620.1:n.3553C>G
ENST00000634810.1:n.2100C>G
ENST00000634844.1:c.2611C>G ENSP00000489398.1:p.Arg871Gly
ENST00000635406.1:n.212-3294C>G
NM_000053.3:c.2755C>G NP_000044.2:p.Arg919Gly
NM_001005918.2:c.2244+235C>G NP_001005918.1:n.2244+235C>G
NM_001243182.1:c.2422C>G NP_001230111.1:p.Arg808Gly
XM_005266423.2:c.2659C>G XP_005266480.1:p.Arg887Gly
XM_005266424.3:c.2659C>G XP_005266481.1:p.Arg887Gly
XM_005266427.2:c.2521C>G XP_005266484.1:p.Arg841Gly
XM_005266428.1:c.2503C>G XP_005266485.1:p.Arg835Gly
XM_005266430.3:c.2755C>G XP_005266487.1:p.Arg919Gly
XM_005266431.2:c.2719C>G XP_005266488.1:p.Arg907Gly
XM_005266432.2:c.2269C>G XP_005266489.1:p.Arg757Gly
XM_006719837.2:c.2659C>G XP_006719900.1:p.Arg887Gly
XM_006719838.1:c.571C>G XP_006719901.1:p.Arg191Gly
XM_006719839.1:c.571C>G XP_006719902.1:p.Arg191Gly
XM_011535117.1:c.2659C>G XP_011533419.1:p.Arg887Gly
XM_011535118.1:c.2730+235C>G XP_011533420.1:n.2730+235C>G
XM_011535119.1:c.2755C>G XP_011533421.1:p.Arg919Gly
XM_011535120.1:c.2341C>G XP_011533422.1:p.Arg781Gly
XM_011535121.1:c.2730+235C>G XP_011533423.1:n.2730+235C>G
XM_011535122.1:c.1423C>G XP_011533424.1:p.Arg475Gly
XR_941601.1:n.2974C>G
XR_941602.1:n.2974C>G
XR_941603.1:n.2974C>G
XR_941604.1:n.2974C>G
NM_001330578.1:c.2521C>G NP_001317507.1:p.Arg841Gly
NM_001330579.1:c.2503C>G NP_001317508.1:p.Arg835Gly
XM_005266424.4:c.2659C>G XP_005266481.1:p.Arg887Gly
XM_005266430.4:c.2755C>G XP_005266487.1:p.Arg919Gly
XM_005266431.4:c.2719C>G XP_005266488.1:p.Arg907Gly
XM_006719837.3:c.2659C>G XP_006719900.1:p.Arg887Gly
XM_011535117.3:c.2659C>G XP_011533419.1:p.Arg887Gly
XM_017020627.1:c.2659C>G XP_016876116.1:p.Arg887Gly
NM_000053.4:c.2755C>G MANE Select NP_000044.2:p.Arg919Gly
NM_001005918.3:c.2244+235C>G NP_001005918.1:n.2244+235C>G
NM_001330579.2:c.2503C>G NP_001317508.1:p.Arg835Gly
NM_001243182.2:c.2422C>G NP_001230111.1:p.Arg808Gly
NM_001330578.2:c.2521C>G NP_001317507.1:p.Arg841Gly