Canonical Allele Identifier: CA4808833

Gene: PDP1

Linked Data

• dbSNP Id: rs745958515
• ExAC: 8:94935737 C / T
• gnomAD v2: 8-94935737-C-T
• gnomAD v3: 8-93923509-C-T
• gnomAD v4: 8-93923509-C-T
• COSMIC: COSM3651871 ; COSM3651872
• MyVariant Identifiers: chr8:g.94935737C>T (hg19) ; chr8:g.93923509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923509C>T , CM000670.2:g.93923509C>T	GRCh38
NC_000008.10:g.94935737C>T , CM000670.1:g.94935737C>T	GRCh37
NC_000008.9:g.95004913C>T	NCBI36
NG_012233.1:g.11576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1450C>T MANE Select	ENSP00000297598.4:p.Arg484Cys
ENST00000297598.4:c.1450C>T	ENSP00000297598.4:p.Arg484Cys
ENST00000396200.3:c.1525C>T	ENSP00000379503.3:p.Arg509Cys
ENST00000517764.1:c.1450C>T	ENSP00000430380.1:p.Arg484Cys
ENST00000520728.5:c.1450C>T	ENSP00000428317.1:p.Arg484Cys
NM_001161779.1:c.1525C>T	NP_001155251.1:p.Arg509Cys
NM_001161780.1:c.1525C>T	NP_001155252.1:p.Arg509Cys
NM_001161781.1:c.1450C>T	NP_001155253.1:p.Arg484Cys
NM_018444.3:c.1450C>T	NP_060914.2:p.Arg484Cys
XM_011517135.1:c.1504C>T	XP_011515437.1:p.Arg502Cys
XM_011517136.1:c.1450C>T	XP_011515438.1:p.Arg484Cys
XM_011517137.1:c.1450C>T	XP_011515439.1:p.Arg484Cys
XM_011517135.2:c.1504C>T	XP_011515437.1:p.Arg502Cys
XM_011517136.2:c.1450C>T	XP_011515438.1:p.Arg484Cys
XM_017013588.1:c.1612C>T	XP_016869077.1:p.Arg538Cys
NM_018444.4:c.1450C>T MANE Select	NP_060914.2:p.Arg484Cys
NM_001161780.2:c.1525C>T	NP_001155252.1:p.Arg509Cys
NM_001161781.2:c.1450C>T	NP_001155253.1:p.Arg484Cys
NM_001161779.2:c.1525C>T	NP_001155251.1:p.Arg509Cys