Canonical Allele Identifier: CA915504947

Gene: PON1

Linked Data

• dbSNP Id: rs1563601639
• gnomAD v2: 7-94950760-C-G
• gnomAD v3: 7-95321448-C-G
• gnomAD v4: 7-95321448-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.95321448C>G , CM000669.2:g.95321448C>G	GRCh38
NC_000007.13:g.94950760C>G , CM000669.1:g.94950760C>G	GRCh37
NC_000007.12:g.94788696C>G	NCBI36
NG_008779.1:g.8125G>C
NG_008779.2:g.8259G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000222381.8:c.74+2954G>C MANE Select	ENSP00000222381.3:n.74+2954G>C
ENST00000222381.7:c.74+2954G>C	ENSP00000222381.3:n.74+2954G>C
ENST00000433729.1:c.74+2954G>C	ENSP00000407359.1:n.74+2954G>C
NM_000446.5:c.74+2954G>C	NP_000437.3:n.74+2954G>C
NM_000446.6:c.74+2954G>C	NP_000437.3:n.74+2954G>C
NM_000446.7:c.74+2954G>C MANE Select	NP_000437.3:n.74+2954G>C