Canonical Allele Identifier: CA145676
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 35708
dbSNP Id: rs732774

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51949672C>T , CM000675.2:g.51949672C>T GRCh38
NC_000013.10:g.52523808C>T , CM000675.1:g.52523808C>T GRCh37
NC_000013.9:g.51421809C>T NCBI36
NG_008806.1:g.66823G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*688G>A ENSP00000489512.2:n.*688G>A
ENST00000673864.2:c.*1599G>A ENSP00000501045.2:n.*1599G>A
ENST00000674147.2:c.2244+335G>A ENSP00000500964.2:n.2244+335G>A
ENST00000242839.10:c.2855G>A MANE Select ENSP00000242839.5:p.Arg952Lys
ENST00000344297.9:c.2244+335G>A ENSP00000342559.5:n.2244+335G>A
ENST00000400366.6:c.2522G>A ENSP00000383217.3:p.Arg841Lys
ENST00000448424.7:c.2603G>A ENSP00000416738.3:p.Arg868Lys
ENST00000673772.1:c.2621G>A ENSP00000501168.1:p.Arg874Lys
ENST00000674126.1:n.35G>A
ENST00000674147.1:c.1800+335G>A ENSP00000500964.1:n.1800+335G>A
ENST00000242839.8:c.2855G>A ENSP00000242839.4:p.Arg952Lys
ENST00000344297.8:c.2244+335G>A ENSP00000342559.5:n.2244+335G>A
ENST00000400366.5:c.2522G>A ENSP00000383217.3:p.Arg841Lys
ENST00000400370.8:c.1565G>A ENSP00000383221.3:p.Arg522Lys
ENST00000418097.7:c.2855G>A ENSP00000393343.2:p.Arg952Lys
ENST00000448424.6:c.2621G>A ENSP00000416738.2:p.Arg874Lys
ENST00000634296.1:c.816G>A
ENST00000634308.1:c.2621G>A ENSP00000489234.1:p.Arg874Lys
ENST00000634620.1:n.3609+44G>A
ENST00000634810.1:n.2200G>A
ENST00000634844.1:c.2711G>A ENSP00000489398.1:p.Arg904Lys
ENST00000635406.1:n.212-3194G>A
NM_000053.3:c.2855G>A NP_000044.2:p.Arg952Lys
NM_001005918.2:c.2244+335G>A NP_001005918.1:n.2244+335G>A
NM_001243182.1:c.2522G>A NP_001230111.1:p.Arg841Lys
XM_005266423.2:c.2759G>A XP_005266480.1:p.Arg920Lys
XM_005266424.3:c.2759G>A XP_005266481.1:p.Arg920Lys
XM_005266427.2:c.2621G>A XP_005266484.1:p.Arg874Lys
XM_005266428.1:c.2603G>A XP_005266485.1:p.Arg868Lys
XM_005266430.3:c.2855G>A XP_005266487.1:p.Arg952Lys
XM_005266431.2:c.2819G>A XP_005266488.1:p.Arg940Lys
XM_005266432.2:c.2369G>A XP_005266489.1:p.Arg790Lys
XM_006719837.2:c.2759G>A XP_006719900.1:p.Arg920Lys
XM_006719838.1:c.671G>A XP_006719901.1:p.Arg224Lys
XM_006719839.1:c.671G>A XP_006719902.1:p.Arg224Lys
XM_011535117.1:c.2759G>A XP_011533419.1:p.Arg920Lys
XM_011535118.1:c.2730+335G>A XP_011533420.1:n.2730+335G>A
XM_011535119.1:c.2855G>A XP_011533421.1:p.Arg952Lys
XM_011535120.1:c.2441G>A XP_011533422.1:p.Arg814Lys
XM_011535121.1:c.2730+335G>A XP_011533423.1:n.2730+335G>A
XM_011535122.1:c.1523G>A XP_011533424.1:p.Arg508Lys
XR_941601.1:n.3074G>A
XR_941602.1:n.3074G>A
XR_941603.1:n.3074G>A
XR_941604.1:n.3074G>A
NM_001330578.1:c.2621G>A NP_001317507.1:p.Arg874Lys
NM_001330579.1:c.2603G>A NP_001317508.1:p.Arg868Lys
XM_005266424.4:c.2759G>A XP_005266481.1:p.Arg920Lys
XM_005266430.4:c.2855G>A XP_005266487.1:p.Arg952Lys
XM_005266431.4:c.2819G>A XP_005266488.1:p.Arg940Lys
XM_006719837.3:c.2759G>A XP_006719900.1:p.Arg920Lys
XM_011535117.3:c.2759G>A XP_011533419.1:p.Arg920Lys
XM_017020627.1:c.2759G>A XP_016876116.1:p.Arg920Lys
NM_000053.4:c.2855G>A MANE Select NP_000044.2:p.Arg952Lys
NM_001005918.3:c.2244+335G>A NP_001005918.1:n.2244+335G>A
NM_001330579.2:c.2603G>A NP_001317508.1:p.Arg868Lys
NM_001243182.2:c.2522G>A NP_001230111.1:p.Arg841Lys
NM_001330578.2:c.2621G>A NP_001317507.1:p.Arg874Lys