Canonical Allele Identifier: CA123413
Gene: PON1 HGNC NCBI
COSMIC:
COSM5618522 (not active)
MyVariant.info:
GRCh38 chr7:g.95316772A>T
GRCh37 chr7:g.94946084A>T
Revel Score:
ENST00000222381 (MANE Select) 0.064
ENST00000542556 0.064
gnomAD v2:
7:94946084 A / T
gnomAD v3:
7:95316772 A / T
gnomAD v4:
chr7-95316772-A-T
Joint Max Group AF 0.3723362 (MID)
Genomes Max Group AF 0.36217266 (NFE)
Exomes Max Group AF 0.36984356 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95316772A>T , CM000669.2:g.95316772A>T GRCh38
NC_000007.13:g.94946084A>T , CM000669.1:g.94946084A>T GRCh37
NC_000007.12:g.94784020A>T NCBI36
NG_008779.1:g.12801T>A
NG_008779.2:g.12935T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.163T>A MANE Select ENSP00000222381.3:p.Leu55Met
ENST00000222381.7:c.163T>A ENSP00000222381.3:p.Leu55Met
ENST00000433729.1:c.163T>A ENSP00000407359.1:p.Leu55Met
ENST00000470502.1:n.283T>A
NM_000446.5:c.163T>A NP_000437.3:p.Leu55Met
NM_000446.6:c.163T>A NP_000437.3:p.Leu55Met
NM_000446.7:c.163T>A MANE Select NP_000437.3:p.Leu55Met
Search 100 bp 5'
Search 100 bp 3'