Canonical Allele Identifier: CA10644739
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 312374
dbSNP Id: rs115420019

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51934566G>T , CM000675.2:g.51934566G>T GRCh38
NC_000013.10:g.52508702G>T , CM000675.1:g.52508702G>T GRCh37
NC_000013.9:g.51406703G>T NCBI36
NG_008806.1:g.81929C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673864.2:c.*3332C>A ENSP00000501045.2:n.*3332C>A
ENST00000674147.2:c.*190C>A ENSP00000500964.2:n.*190C>A
ENST00000242839.10:c.*190C>A MANE Select ENSP00000242839.5:n.*190C>A
ENST00000344297.9:c.*190C>A ENSP00000342559.5:n.*190C>A
ENST00000448424.7:c.*190C>A ENSP00000416738.3:n.*190C>A
ENST00000673696.1:n.1911C>A
ENST00000673867.1:n.4727C>A
ENST00000673923.1:n.1454C>A
ENST00000674147.1:c.3523C>A ENSP00000500964.1:n.3523C>A
ENST00000242839.8:c.*190C>A ENSP00000242839.4:n.*190C>A
ENST00000344297.8:c.*190C>A ENSP00000342559.5:n.*190C>A
ENST00000400366.5:c.*190C>A ENSP00000383217.3:n.*190C>A
ENST00000448424.6:c.*190C>A ENSP00000416738.2:n.*190C>A
ENST00000634620.1:n.5332C>A
ENST00000634810.1:n.3933C>A
NM_000053.3:c.*190C>A NP_000044.2:n.*190C>A
NM_001005918.2:c.*190C>A NP_001005918.1:n.*190C>A
NM_001243182.1:c.*190C>A NP_001230111.1:n.*190C>A
XM_005266423.2:c.*190C>A XP_005266480.1:n.*190C>A
XM_005266424.3:c.*190C>A XP_005266481.1:n.*190C>A
XM_005266427.2:c.*190C>A XP_005266484.1:n.*190C>A
XM_005266428.1:c.*190C>A XP_005266485.1:n.*190C>A
XM_005266430.3:c.*190C>A XP_005266487.1:n.*190C>A
XM_005266431.2:c.*190C>A XP_005266488.1:n.*190C>A
XM_005266432.2:c.*190C>A XP_005266489.1:n.*190C>A
XM_006719837.2:c.*190C>A XP_006719900.1:n.*190C>A
XM_006719838.1:c.*190C>A XP_006719901.1:n.*190C>A
XM_006719839.1:c.*190C>A XP_006719902.1:n.*190C>A
XM_011535117.1:c.*190C>A XP_011533419.1:n.*190C>A
XM_011535118.1:c.*190C>A XP_011533420.1:n.*190C>A
XM_011535119.1:c.*190C>A XP_011533421.1:n.*190C>A
XM_011535120.1:c.*190C>A XP_011533422.1:n.*190C>A
XM_011535121.1:c.*190C>A XP_011533423.1:n.*190C>A
XM_011535122.1:c.*190C>A XP_011533424.1:n.*190C>A
XR_941601.1:n.4807C>A
XR_941602.1:n.4807C>A
XR_941603.1:n.4807C>A
XR_941604.1:n.4807C>A
NM_001330578.1:c.*190C>A NP_001317507.1:n.*190C>A
NM_001330579.1:c.*190C>A NP_001317508.1:n.*190C>A
XM_005266424.4:c.*190C>A XP_005266481.1:n.*190C>A
XM_005266430.4:c.*190C>A XP_005266487.1:n.*190C>A
XM_005266431.4:c.*190C>A XP_005266488.1:n.*190C>A
XM_006719837.3:c.*190C>A XP_006719900.1:n.*190C>A
XM_011535117.3:c.*190C>A XP_011533419.1:n.*190C>A
XM_017020627.1:c.*190C>A XP_016876116.1:n.*190C>A
NM_000053.4:c.*190C>A MANE Select NP_000044.2:n.*190C>A
NM_001005918.3:c.*190C>A NP_001005918.1:n.*190C>A
NM_001330579.2:c.*190C>A NP_001317508.1:n.*190C>A
NM_001243182.2:c.*190C>A NP_001230111.1:n.*190C>A
NM_001330578.2:c.*190C>A NP_001317507.1:n.*190C>A