Canonical Allele Identifier: CA576336424

Gene: PON1

Linked Data

• dbSNP Id: rs1187427227
• gnomAD v2: 7-94946005-A-G
• gnomAD v4: 7-95316693-A-G
• MyVariant Identifiers: chr7:g.94946005A>G (hg19) ; chr7:g.95316693A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.95316693A>G , CM000669.2:g.95316693A>G	GRCh38
NC_000007.13:g.94946005A>G , CM000669.1:g.94946005A>G	GRCh37
NC_000007.12:g.94783941A>G	NCBI36
NG_008779.1:g.12880T>C
NG_008779.2:g.13014T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000222381.8:c.201+41T>C MANE Select	ENSP00000222381.3:n.201+41T>C
ENST00000222381.7:c.201+41T>C	ENSP00000222381.3:n.201+41T>C
ENST00000433729.1:c.201+41T>C	ENSP00000407359.1:n.201+41T>C
ENST00000470502.1:n.321+41T>C
NM_000446.5:c.201+41T>C	NP_000437.3:n.201+41T>C
NM_000446.6:c.201+41T>C	NP_000437.3:n.201+41T>C
NM_000446.7:c.201+41T>C MANE Select	NP_000437.3:n.201+41T>C