Canonical Allele Identifier: CA181376433

Gene: PDP1

Linked Data

• ClinVar Variation Id: 1506920
• ClinVar RCV Id: RCV002007079
• dbSNP Id: rs960823238
• gnomAD v2: 8-94935839-A-G
• gnomAD v3: 8-93923611-A-G
• gnomAD v4: 8-93923611-A-G
• MyVariant Identifiers: chr8:g.94935839A>G (hg19) ; chr8:g.93923611A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923611A>G , CM000670.2:g.93923611A>G	GRCh38
NC_000008.10:g.94935839A>G , CM000670.1:g.94935839A>G	GRCh37
NC_000008.9:g.95005015A>G	NCBI36
NG_012233.1:g.11678A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1552A>G MANE Select	ENSP00000297598.4:p.Ile518Val
ENST00000297598.4:c.1552A>G	ENSP00000297598.4:p.Ile518Val
ENST00000396200.3:c.1627A>G	ENSP00000379503.3:p.Ile543Val
ENST00000517764.1:c.1552A>G	ENSP00000430380.1:p.Ile518Val
ENST00000520728.5:c.1552A>G	ENSP00000428317.1:p.Ile518Val
NM_001161779.1:c.1627A>G	NP_001155251.1:p.Ile543Val
NM_001161780.1:c.1627A>G	NP_001155252.1:p.Ile543Val
NM_001161781.1:c.1552A>G	NP_001155253.1:p.Ile518Val
NM_018444.3:c.1552A>G	NP_060914.2:p.Ile518Val
XM_011517135.1:c.1606A>G	XP_011515437.1:p.Ile536Val
XM_011517136.1:c.1552A>G	XP_011515438.1:p.Ile518Val
XM_011517137.1:c.1552A>G	XP_011515439.1:p.Ile518Val
XM_011517135.2:c.1606A>G	XP_011515437.1:p.Ile536Val
XM_011517136.2:c.1552A>G	XP_011515438.1:p.Ile518Val
XM_017013588.1:c.1714A>G	XP_016869077.1:p.Ile572Val
NM_018444.4:c.1552A>G MANE Select	NP_060914.2:p.Ile518Val
NM_001161780.2:c.1627A>G	NP_001155252.1:p.Ile543Val
NM_001161781.2:c.1552A>G	NP_001155253.1:p.Ile518Val
NM_001161779.2:c.1627A>G	NP_001155251.1:p.Ile543Val