Canonical Allele Identifier: CA377980895
Gene: PI4K2A HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97640921C>T
GRCh37 chr10:g.99400678C>T
Revel Score:
ENST00000370631 (MANE Select) 0.345
ClinVar RCV:
RCV004105628
ClinVar Variation:
2242947
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97640921C>T , CM000672.2:g.97640921C>T GRCh38
NC_000010.10:g.99400678C>T , CM000672.1:g.99400678C>T GRCh37
NC_000010.9:g.99390668C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370631.4:c.179C>T MANE Select ENSP00000359665.3:p.Pro60Leu
ENST00000370631.3:c.179C>T ENSP00000359665.3:p.Pro60Leu
ENST00000370649.3:c.346-10020C>T ENSP00000359683.3:n.346-10020C>T
NM_018425.3:c.179C>T NP_060895.1:p.Pro60Leu
NM_018425.4:c.179C>T MANE Select NP_060895.1:p.Pro60Leu
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