Canonical Allele Identifier: CA16041684
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 371539
ClinVar RCV Id: RCV000411235
dbSNP Id: rs1057517351

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51975169C>A , CM000675.2:g.51975169C>A GRCh38
NC_000013.10:g.52549305C>A , CM000675.1:g.52549305C>A GRCh37
NC_000013.9:g.51447306C>A NCBI36
NG_008806.1:g.41326G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.52-1G>T ENSP00000489512.2:n.52-1G>T
ENST00000673864.2:c.52-1G>T ENSP00000501045.2:n.52-1G>T
ENST00000674147.2:c.52-1G>T ENSP00000500964.2:n.52-1G>T
ENST00000242839.10:c.52-1G>T MANE Select ENSP00000242839.5:n.52-1G>T
ENST00000344297.9:c.52-1G>T ENSP00000342559.5:n.52-1G>T
ENST00000400366.6:c.52-1G>T ENSP00000383217.3:n.52-1G>T
ENST00000448424.7:c.52-1G>T ENSP00000416738.3:n.52-1G>T
ENST00000673772.1:c.52-1G>T ENSP00000501168.1:n.52-1G>T
ENST00000673844.1:n.382-1G>T
ENST00000674078.1:n.157-1G>T
ENST00000242839.8:c.52-1G>T ENSP00000242839.4:n.52-1G>T
ENST00000344297.8:c.52-1G>T ENSP00000342559.5:n.52-1G>T
ENST00000400366.5:c.52-1G>T ENSP00000383217.3:n.52-1G>T
ENST00000400370.8:c.52-1G>T ENSP00000383221.3:n.52-1G>T
ENST00000418097.7:c.52-1G>T ENSP00000393343.2:n.52-1G>T
ENST00000448424.6:c.52-1G>T ENSP00000416738.2:n.52-1G>T
ENST00000482841.6:n.173-1G>T
ENST00000634308.1:c.52-1G>T ENSP00000489234.1:n.52-1G>T
ENST00000634844.1:c.52-1G>T ENSP00000489398.1:n.52-1G>T
ENST00000635406.1:n.212-28691G>T
NM_000053.3:c.52-1G>T NP_000044.2:n.52-1G>T
NM_001005918.2:c.52-1G>T NP_001005918.1:n.52-1G>T
NM_001243182.1:c.52-1G>T NP_001230111.1:n.52-1G>T
XM_005266423.2:c.-45-1G>T XP_005266480.1:n.-45-1G>T
XM_005266424.3:c.-45-1G>T XP_005266481.1:n.-45-1G>T
XM_005266427.2:c.52-1G>T XP_005266484.1:n.52-1G>T
XM_005266428.1:c.52-1G>T XP_005266485.1:n.52-1G>T
XM_005266430.3:c.52-1G>T XP_005266487.1:n.52-1G>T
XM_005266431.2:c.16-1G>T XP_005266488.1:n.16-1G>T
XM_005266432.2:c.52-1G>T XP_005266489.1:n.52-1G>T
XM_006719837.2:c.-45-1G>T XP_006719900.1:n.-45-1G>T
XM_011535117.1:c.-45-1G>T XP_011533419.1:n.-45-1G>T
XM_011535118.1:c.52-1G>T XP_011533420.1:n.52-1G>T
XM_011535119.1:c.52-1G>T XP_011533421.1:n.52-1G>T
XM_011535120.1:c.52-1G>T XP_011533422.1:n.52-1G>T
XM_011535121.1:c.52-1G>T XP_011533423.1:n.52-1G>T
XR_941601.1:n.271-1G>T
XR_941602.1:n.271-1G>T
XR_941603.1:n.271-1G>T
XR_941604.1:n.271-1G>T
NM_001330578.1:c.52-1G>T NP_001317507.1:n.52-1G>T
NM_001330579.1:c.52-1G>T NP_001317508.1:n.52-1G>T
XM_005266424.4:c.-45-1G>T XP_005266481.1:n.-45-1G>T
XM_005266430.4:c.52-1G>T XP_005266487.1:n.52-1G>T
XM_005266431.4:c.16-1G>T XP_005266488.1:n.16-1G>T
XM_006719837.3:c.-45-1G>T XP_006719900.1:n.-45-1G>T
XM_011535117.3:c.-45-1G>T XP_011533419.1:n.-45-1G>T
XM_017020627.1:c.-45-1G>T XP_016876116.1:n.-45-1G>T
NM_000053.4:c.52-1G>T MANE Select NP_000044.2:n.52-1G>T
NM_001005918.3:c.52-1G>T NP_001005918.1:n.52-1G>T
NM_001330579.2:c.52-1G>T NP_001317508.1:n.52-1G>T
NM_001243182.2:c.52-1G>T NP_001230111.1:n.52-1G>T
NM_001330578.2:c.52-1G>T NP_001317507.1:n.52-1G>T