Canonical Allele Identifier: CA4260831
Gene: ZPBP HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50058049C>T , CM000669.2:g.50058049C>T GRCh38
NC_000007.13:g.50097645C>T , CM000669.1:g.50097645C>T GRCh37
NC_000007.12:g.50068191C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000046087.7:c.427G>A MANE Select ENSP00000046087.2:p.Glu143Lys
ENST00000046087.6:c.427G>A ENSP00000046087.2:p.Glu143Lys
ENST00000419417.5:c.424G>A ENSP00000402071.1:p.Glu142Lys
NM_001159878.1:c.424G>A NP_001153350.1:p.Glu142Lys
NM_007009.2:c.427G>A NP_008940.2:p.Glu143Lys
XM_011515095.1:c.427G>A XP_011513397.1:p.Glu143Lys
XM_011515096.1:c.424G>A XP_011513398.1:p.Glu142Lys
XM_011515097.1:c.427G>A XP_011513399.1:p.Glu143Lys
XM_011515098.1:c.427G>A XP_011513400.1:p.Glu143Lys
XM_011515099.1:c.427G>A XP_011513401.1:p.Glu143Lys
XM_011515100.1:c.301G>A XP_011513402.1:p.Glu101Lys
XM_011515101.1:c.334+23725G>A XP_011513403.1:n.334+23725G>A
XM_011515102.1:c.205G>A XP_011513404.1:p.Glu69Lys
XM_011515103.1:c.427G>A XP_011513405.1:p.Glu143Lys
XM_011515095.2:c.427G>A XP_011513397.1:p.Glu143Lys
XM_011515096.2:c.424G>A XP_011513398.1:p.Glu142Lys
XM_011515100.2:c.301G>A XP_011513402.1:p.Glu101Lys
XM_011515101.3:c.334+23725G>A XP_011513403.1:n.334+23725G>A
XM_011515102.2:c.205G>A XP_011513404.1:p.Glu69Lys
XM_017011707.1:c.427G>A XP_016867196.1:p.Glu143Lys
XM_024446645.1:c.334+23725G>A XP_024302413.1:n.334+23725G>A
XM_024446646.1:c.202G>A XP_024302414.1:p.Glu68Lys
XR_001744543.1:n.491G>A
NM_007009.3:c.427G>A MANE Select NP_008940.2:p.Glu143Lys
NM_001159878.2:c.424G>A NP_001153350.1:p.Glu142Lys