Canonical Allele Identifier: CA371697559

Gene: PDP1

Linked Data

• dbSNP Id: rs1418312363
• gnomAD v2: 8-94935758-G-A
• gnomAD v4: 8-93923530-G-A
• MyVariant Identifiers: chr8:g.94935758G>A (hg19) ; chr8:g.93923530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923530G>A , CM000670.2:g.93923530G>A	GRCh38
NC_000008.10:g.94935758G>A , CM000670.1:g.94935758G>A	GRCh37
NC_000008.9:g.95004934G>A	NCBI36
NG_012233.1:g.11597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1471G>A MANE Select	ENSP00000297598.4:p.Glu491Lys
ENST00000297598.4:c.1471G>A	ENSP00000297598.4:p.Glu491Lys
ENST00000396200.3:c.1546G>A	ENSP00000379503.3:p.Glu516Lys
ENST00000517764.1:c.1471G>A	ENSP00000430380.1:p.Glu491Lys
ENST00000520728.5:c.1471G>A	ENSP00000428317.1:p.Glu491Lys
NM_001161779.1:c.1546G>A	NP_001155251.1:p.Glu516Lys
NM_001161780.1:c.1546G>A	NP_001155252.1:p.Glu516Lys
NM_001161781.1:c.1471G>A	NP_001155253.1:p.Glu491Lys
NM_018444.3:c.1471G>A	NP_060914.2:p.Glu491Lys
XM_011517135.1:c.1525G>A	XP_011515437.1:p.Glu509Lys
XM_011517136.1:c.1471G>A	XP_011515438.1:p.Glu491Lys
XM_011517137.1:c.1471G>A	XP_011515439.1:p.Glu491Lys
XM_011517135.2:c.1525G>A	XP_011515437.1:p.Glu509Lys
XM_011517136.2:c.1471G>A	XP_011515438.1:p.Glu491Lys
XM_017013588.1:c.1633G>A	XP_016869077.1:p.Glu545Lys
NM_018444.4:c.1471G>A MANE Select	NP_060914.2:p.Glu491Lys
NM_001161780.2:c.1546G>A	NP_001155252.1:p.Glu516Lys
NM_001161781.2:c.1471G>A	NP_001155253.1:p.Glu491Lys
NM_001161779.2:c.1546G>A	NP_001155251.1:p.Glu516Lys