Allele Registry

Canonical Allele Identifier: CA12836298

Gene: PPDPFL HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr8:g.49074671A>G

GRCh37 chr8:g.49987230A>G

Linked Data - Sequence & Population

gnomAD v2:

8:49987230 A / G

gnomAD v3:

8:49074671 A / G

gnomAD v4:

chr8-49074671-A-G

Joint Max Group AF 0.38891245 (NFE)

Genomes Max Group AF 0.38269004 (NFE)

Exomes Max Group AF 0.38909025 (NFE)

Linked Data - NCBI & NCI

dbSNP:

2292399

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.49074671A>G , CM000670.2:g.49074671A>G	GRCh38
NC_000008.10:g.49987230A>G , CM000670.1:g.49987230A>G	GRCh37
NC_000008.9:g.50149783A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522267.6:c.233+338A>G MANE Select	ENSP00000428773.1:n.233+338A>G
ENST00000303202.8:c.*140A>G	ENSP00000304926.8:n.*140A>G
ENST00000399653.8:c.233+338A>G	ENSP00000382561.4:n.233+338A>G
ENST00000517663.5:c.233+338A>G	ENSP00000430392.1:n.233+338A>G
ENST00000522267.5:c.233+338A>G	ENSP00000428773.1:n.233+338A>G
NM_001007176.4:c.233+338A>G	NP_001007177.1:n.233+338A>G
NM_001256596.1:c.233+338A>G	NP_001243525.1:n.233+338A>G
NM_001256597.1:c.233+338A>G	NP_001243526.1:n.233+338A>G
NM_001256598.1:c.*140A>G	NP_001243527.1:n.*140A>G
NM_001007176.5:c.233+338A>G	NP_001007177.1:n.233+338A>G
NM_001256597.2:c.233+338A>G MANE Select	NP_001243526.1:n.233+338A>G
NM_001256598.2:c.*140A>G	NP_001243527.1:n.*140A>G

Search 100 bp 5'

Search 100 bp 3'