Canonical Allele Identifier: CA2601867435

Gene: PON1

Linked Data

• dbSNP Id: rs2116333363
• gnomAD v3: 7-95324270-C-T
• gnomAD v4: 7-95324270-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.95324270C>T , CM000669.2:g.95324270C>T	GRCh38
NC_000007.13:g.94953582C>T , CM000669.1:g.94953582C>T	GRCh37
NC_000007.12:g.94791518C>T	NCBI36
NG_008779.1:g.5303G>A
NG_008779.2:g.5437G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222381.8:c.74+132G>A MANE Select	ENSP00000222381.3:n.74+132G>A
ENST00000222381.7:c.74+132G>A	ENSP00000222381.3:n.74+132G>A
ENST00000433729.1:c.74+132G>A	ENSP00000407359.1:n.74+132G>A
NM_000446.5:c.74+132G>A	NP_000437.3:n.74+132G>A
NM_000446.6:c.74+132G>A	NP_000437.3:n.74+132G>A
NM_000446.7:c.74+132G>A MANE Select	NP_000437.3:n.74+132G>A