Canonical Allele Identifier: CA6988785
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 312383
dbSNP Id: rs764131178

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944170C>T , CM000675.2:g.51944170C>T GRCh38
NC_000013.10:g.52518306C>T , CM000675.1:g.52518306C>T GRCh37
NC_000013.9:g.51416307C>T NCBI36
NG_008806.1:g.72325G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*894-1616G>A ENSP00000489512.2:n.*894-1616G>A
ENST00000673864.2:c.*1926G>A ENSP00000501045.2:n.*1926G>A
ENST00000674147.2:c.2561G>A ENSP00000500964.2:p.Gly854Glu
ENST00000242839.10:c.3182G>A MANE Select ENSP00000242839.5:p.Gly1061Glu
ENST00000344297.9:c.2561G>A ENSP00000342559.5:p.Gly854Glu
ENST00000400366.6:c.2849G>A ENSP00000383217.3:p.Gly950Glu
ENST00000448424.7:c.2930G>A ENSP00000416738.3:p.Gly977Glu
ENST00000673772.1:c.2948G>A ENSP00000501168.1:p.Gly983Glu
ENST00000673867.1:n.3321G>A
ENST00000674126.1:n.3545G>A
ENST00000674147.1:c.2117G>A ENSP00000500964.1:p.Gly706Glu
ENST00000242839.8:c.3182G>A ENSP00000242839.4:p.Gly1061Glu
ENST00000344297.8:c.2561G>A ENSP00000342559.5:p.Gly854Glu
ENST00000400366.5:c.2849G>A ENSP00000383217.3:p.Gly950Glu
ENST00000400370.8:c.1892G>A ENSP00000383221.3:p.Gly631Glu
ENST00000418097.7:c.2987G>A ENSP00000393343.2:p.Gly996Glu
ENST00000448424.6:c.2948G>A ENSP00000416738.2:p.Gly983Glu
ENST00000466629.1:n.402G>A
ENST00000634296.1:c.1022-1616G>A
ENST00000634308.1:c.*283G>A ENSP00000489234.1:n.*283G>A
ENST00000634620.1:n.3926G>A
ENST00000634810.1:n.2527G>A
ENST00000634844.1:c.3038G>A ENSP00000489398.1:p.Gly1013Glu
NM_000053.3:c.3182G>A NP_000044.2:p.Gly1061Glu
NM_001005918.2:c.2561G>A NP_001005918.1:p.Gly854Glu
NM_001243182.1:c.2849G>A NP_001230111.1:p.Gly950Glu
XM_005266423.2:c.3086G>A XP_005266480.1:p.Gly1029Glu
XM_005266424.3:c.3086G>A XP_005266481.1:p.Gly1029Glu
XM_005266427.2:c.2948G>A XP_005266484.1:p.Gly983Glu
XM_005266428.1:c.2930G>A XP_005266485.1:p.Gly977Glu
XM_005266430.3:c.3182G>A XP_005266487.1:p.Gly1061Glu
XM_005266431.2:c.3146G>A XP_005266488.1:p.Gly1049Glu
XM_005266432.2:c.2696G>A XP_005266489.1:p.Gly899Glu
XM_006719837.2:c.3086G>A XP_006719900.1:p.Gly1029Glu
XM_006719838.1:c.998G>A XP_006719901.1:p.Gly333Glu
XM_006719839.1:c.877-1616G>A XP_006719902.1:n.877-1616G>A
XM_011535117.1:c.3086G>A XP_011533419.1:p.Gly1029Glu
XM_011535118.1:c.3047G>A XP_011533420.1:p.Gly1016Glu
XM_011535119.1:c.3061-1616G>A XP_011533421.1:n.3061-1616G>A
XM_011535120.1:c.2768G>A XP_011533422.1:p.Gly923Glu
XM_011535121.1:c.2731-1616G>A XP_011533423.1:n.2731-1616G>A
XM_011535122.1:c.1850G>A XP_011533424.1:p.Gly617Glu
XR_941601.1:n.3401G>A
XR_941602.1:n.3401G>A
XR_941603.1:n.3401G>A
XR_941604.1:n.3401G>A
NM_001330578.1:c.2948G>A NP_001317507.1:p.Gly983Glu
NM_001330579.1:c.2930G>A NP_001317508.1:p.Gly977Glu
XM_005266424.4:c.3086G>A XP_005266481.1:p.Gly1029Glu
XM_005266430.4:c.3182G>A XP_005266487.1:p.Gly1061Glu
XM_005266431.4:c.3146G>A XP_005266488.1:p.Gly1049Glu
XM_006719837.3:c.3086G>A XP_006719900.1:p.Gly1029Glu
XM_011535117.3:c.3086G>A XP_011533419.1:p.Gly1029Glu
XM_017020627.1:c.3086G>A XP_016876116.1:p.Gly1029Glu
NM_000053.4:c.3182G>A MANE Select NP_000044.2:p.Gly1061Glu
NM_001005918.3:c.2561G>A NP_001005918.1:p.Gly854Glu
NM_001330579.2:c.2930G>A NP_001317508.1:p.Gly977Glu
NM_001243182.2:c.2849G>A NP_001230111.1:p.Gly950Glu
NM_001330578.2:c.2948G>A NP_001317507.1:p.Gly983Glu