Canonical Allele Identifier: CA367563606
Gene: ZPBP HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50081820T>C , CM000669.2:g.50081820T>C GRCh38
NC_000007.13:g.50121416T>C , CM000669.1:g.50121416T>C GRCh37
NC_000007.12:g.50091962T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000046087.7:c.288A>G MANE Select ENSP00000046087.2:p.Ile96Met
ENST00000046087.6:c.288A>G ENSP00000046087.2:p.Ile96Met
ENST00000419417.5:c.288A>G ENSP00000402071.1:p.Ile96Met
ENST00000450231.1:c.171A>G ENSP00000390054.1:p.Ile57Met
NM_001159878.1:c.288A>G NP_001153350.1:p.Ile96Met
NM_007009.2:c.288A>G NP_008940.2:p.Ile96Met
XM_011515095.1:c.288A>G XP_011513397.1:p.Ile96Met
XM_011515096.1:c.288A>G XP_011513398.1:p.Ile96Met
XM_011515097.1:c.288A>G XP_011513399.1:p.Ile96Met
XM_011515098.1:c.288A>G XP_011513400.1:p.Ile96Met
XM_011515099.1:c.288A>G XP_011513401.1:p.Ile96Met
XM_011515100.1:c.208+7809A>G XP_011513402.1:n.208+7809A>G
XM_011515101.1:c.288A>G XP_011513403.1:p.Ile96Met
XM_011515102.1:c.66A>G XP_011513404.1:p.Ile22Met
XM_011515103.1:c.288A>G XP_011513405.1:p.Ile96Met
XM_011515095.2:c.288A>G XP_011513397.1:p.Ile96Met
XM_011515096.2:c.288A>G XP_011513398.1:p.Ile96Met
XM_011515100.2:c.208+7809A>G XP_011513402.1:n.208+7809A>G
XM_011515101.3:c.288A>G XP_011513403.1:p.Ile96Met
XM_011515102.2:c.66A>G XP_011513404.1:p.Ile22Met
XM_017011707.1:c.288A>G XP_016867196.1:p.Ile96Met
XM_024446645.1:c.288A>G XP_024302413.1:p.Ile96Met
XM_024446646.1:c.66A>G XP_024302414.1:p.Ile22Met
XR_001744543.1:n.352A>G
NM_007009.3:c.288A>G MANE Select NP_008940.2:p.Ile96Met
NM_001159878.2:c.288A>G NP_001153350.1:p.Ile96Met