Canonical Allele Identifier: CA123413
Gene: PON1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13736
dbSNP Id: rs854560
gnomAD v2: 7-94946084-A-T
gnomAD v3: 7-95316772-A-T
gnomAD v4: 7-95316772-A-T

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