Canonical Allele Identifier: CA844110059
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs1330367583

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95308054dup , CM000669.2:g.95308054dup GRCh38
NC_000007.13:g.94937366dup , CM000669.1:g.94937366dup GRCh37
NC_000007.12:g.94775302dup NCBI36
NG_008779.1:g.21520dup
NG_008779.2:g.21654dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.656dup MANE Select ENSP00000222381.3:p.Phe220IlefsTer2
ENST00000222381.7:c.656dup ENSP00000222381.3:p.Phe220IlefsTer2
ENST00000433729.1:c.*381dup ENSP00000407359.1:n.*381dup
NM_000446.5:c.656dup NP_000437.3:p.Phe220IlefsTer2
NM_000446.6:c.656dup NP_000437.3:p.Phe220IlefsTer2
NM_000446.7:c.656dup MANE Select NP_000437.3:p.Phe220IlefsTer2