Canonical Allele Identifier: CA342408860
Gene: PPIAL4G HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.148482997C>T
Revel Score:
ENST00000419275 (MANE Select) 0.171
gnomAD v3:
1:148482997 C / T
gnomAD v4:
chr1-148482997-C-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV004150390
ClinVar Variation:
2302499
dbSNP:
1184622398
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.148482997C>T , CM000663.2:g.148482997C>T GRCh38
NC_000001.9:g.142559116C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000419275.3:c.256G>A MANE Select ENSP00000393845.1:p.Glu86Lys
ENST00000419275.2:c.256G>A ENSP00000393845.1:p.Glu86Lys
NM_001123068.1:c.256G>A NP_001116540.1:p.Glu86Lys
NM_001123068.2:c.256G>A NP_001116540.1:p.Glu86Lys
NM_001123068.3:c.256G>A MANE Select NP_001116540.1:p.Glu86Lys
Search 100 bp 5'
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