Canonical Allele Identifier: CA123411
Gene: PON1 HGNC NCBI
COSMIC:
COSM150330 (not active)
MyVariant.info:
GRCh38 chr7:g.95308134T>C
GRCh37 chr7:g.94937446T>C
Revel Score:
ENST00000222381 (MANE Select) 0.024
ENST00000542556 0.024
gnomAD v2:
7:94937446 T / C
gnomAD v3:
7:95308134 T / C
gnomAD v4:
chr7-95308134-T-C
Joint Max Group AF 0.67142627 (AFR)
Genomes Max Group AF 0.66363701 (AFR)
Exomes Max Group AF 0.6765049 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95308134T>C , CM000669.2:g.95308134T>C GRCh38
NC_000007.13:g.94937446T>C , CM000669.1:g.94937446T>C GRCh37
NC_000007.12:g.94775382T>C NCBI36
NG_008779.1:g.21439A>G
NG_008779.2:g.21573A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.575A>G MANE Select ENSP00000222381.3:p.Gln192Arg
ENST00000222381.7:c.575A>G ENSP00000222381.3:p.Gln192Arg
ENST00000433729.1:c.*300A>G ENSP00000407359.1:n.*300A>G
NM_000446.5:c.575A>G NP_000437.3:p.Gln192Arg
NM_000446.6:c.575A>G NP_000437.3:p.Gln192Arg
NM_000446.7:c.575A>G MANE Select NP_000437.3:p.Gln192Arg
Search 100 bp 5'
Search 100 bp 3'