Canonical Allele Identifier: CA371698240

Gene: PDP1

Linked Data

• ClinVar Variation Id: 1376060
• ClinVar RCV Id: RCV001902588
• dbSNP Id: rs2130392398
• gnomAD v4: 8-93923660-A-G
• MyVariant Identifiers: chr8:g.94935888A>G (hg19) ; chr8:g.93923660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923660A>G , CM000670.2:g.93923660A>G	GRCh38
NC_000008.10:g.94935888A>G , CM000670.1:g.94935888A>G	GRCh37
NC_000008.9:g.95005064A>G	NCBI36
NG_012233.1:g.11727A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1601A>G MANE Select	ENSP00000297598.4:p.Gln534Arg
ENST00000297598.4:c.1601A>G	ENSP00000297598.4:p.Gln534Arg
ENST00000396200.3:c.1676A>G	ENSP00000379503.3:p.Gln559Arg
ENST00000517764.1:c.1601A>G	ENSP00000430380.1:p.Gln534Arg
ENST00000520728.5:c.1601A>G	ENSP00000428317.1:p.Gln534Arg
NM_001161779.1:c.1676A>G	NP_001155251.1:p.Gln559Arg
NM_001161780.1:c.1676A>G	NP_001155252.1:p.Gln559Arg
NM_001161781.1:c.1601A>G	NP_001155253.1:p.Gln534Arg
NM_018444.3:c.1601A>G	NP_060914.2:p.Gln534Arg
XM_011517135.1:c.1655A>G	XP_011515437.1:p.Gln552Arg
XM_011517136.1:c.1601A>G	XP_011515438.1:p.Gln534Arg
XM_011517137.1:c.1601A>G	XP_011515439.1:p.Gln534Arg
XM_011517135.2:c.1655A>G	XP_011515437.1:p.Gln552Arg
XM_011517136.2:c.1601A>G	XP_011515438.1:p.Gln534Arg
XM_017013588.1:c.1763A>G	XP_016869077.1:p.Gln588Arg
NM_018444.4:c.1601A>G MANE Select	NP_060914.2:p.Gln534Arg
NM_001161780.2:c.1676A>G	NP_001155252.1:p.Gln559Arg
NM_001161781.2:c.1601A>G	NP_001155253.1:p.Gln534Arg
NM_001161779.2:c.1676A>G	NP_001155251.1:p.Gln559Arg