Canonical Allele Identifier: CA371694437

Gene: PDP1

Linked Data

• dbSNP Id: rs1402568352
• gnomAD v2: 8-94935136-C-A
• gnomAD v4: 8-93922908-C-A
• MyVariant Identifiers: chr8:g.94935136C>A (hg19) ; chr8:g.93922908C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93922908C>A , CM000670.2:g.93922908C>A	GRCh38
NC_000008.10:g.94935136C>A , CM000670.1:g.94935136C>A	GRCh37
NC_000008.9:g.95004312C>A	NCBI36
NG_012233.1:g.10975C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.849C>A MANE Select	ENSP00000297598.4:p.Asp283Glu
ENST00000297598.4:c.849C>A	ENSP00000297598.4:p.Asp283Glu
ENST00000396200.3:c.924C>A	ENSP00000379503.3:p.Asp308Glu
ENST00000517764.1:c.849C>A	ENSP00000430380.1:p.Asp283Glu
ENST00000520728.5:c.849C>A	ENSP00000428317.1:p.Asp283Glu
NM_001161779.1:c.924C>A	NP_001155251.1:p.Asp308Glu
NM_001161780.1:c.924C>A	NP_001155252.1:p.Asp308Glu
NM_001161781.1:c.849C>A	NP_001155253.1:p.Asp283Glu
NM_018444.3:c.849C>A	NP_060914.2:p.Asp283Glu
XM_011517135.1:c.903C>A	XP_011515437.1:p.Asp301Glu
XM_011517136.1:c.849C>A	XP_011515438.1:p.Asp283Glu
XM_011517137.1:c.849C>A	XP_011515439.1:p.Asp283Glu
XM_011517135.2:c.903C>A	XP_011515437.1:p.Asp301Glu
XM_011517136.2:c.849C>A	XP_011515438.1:p.Asp283Glu
XM_017013588.1:c.1011C>A	XP_016869077.1:p.Asp337Glu
NM_018444.4:c.849C>A MANE Select	NP_060914.2:p.Asp283Glu
NM_001161780.2:c.924C>A	NP_001155252.1:p.Asp308Glu
NM_001161781.2:c.849C>A	NP_001155253.1:p.Asp283Glu
NM_001161779.2:c.924C>A	NP_001155251.1:p.Asp308Glu