Canonical Allele Identifier: CA371695618

Gene: PDP1

Linked Data

• dbSNP Id: rs750548247
• gnomAD v3: 8-93923149-C-T
• gnomAD v4: 8-93923149-C-T
• MyVariant Identifiers: chr8:g.94935377C>T (hg19) ; chr8:g.93923149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923149C>T , CM000670.2:g.93923149C>T	GRCh38
NC_000008.10:g.94935377C>T , CM000670.1:g.94935377C>T	GRCh37
NC_000008.9:g.95004553C>T	NCBI36
NG_012233.1:g.11216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1090C>T MANE Select	ENSP00000297598.4:p.Leu364Phe
ENST00000297598.4:c.1090C>T	ENSP00000297598.4:p.Leu364Phe
ENST00000396200.3:c.1165C>T	ENSP00000379503.3:p.Leu389Phe
ENST00000517764.1:c.1090C>T	ENSP00000430380.1:p.Leu364Phe
ENST00000520728.5:c.1090C>T	ENSP00000428317.1:p.Leu364Phe
NM_001161779.1:c.1165C>T	NP_001155251.1:p.Leu389Phe
NM_001161780.1:c.1165C>T	NP_001155252.1:p.Leu389Phe
NM_001161781.1:c.1090C>T	NP_001155253.1:p.Leu364Phe
NM_018444.3:c.1090C>T	NP_060914.2:p.Leu364Phe
XM_011517135.1:c.1144C>T	XP_011515437.1:p.Leu382Phe
XM_011517136.1:c.1090C>T	XP_011515438.1:p.Leu364Phe
XM_011517137.1:c.1090C>T	XP_011515439.1:p.Leu364Phe
XM_011517135.2:c.1144C>T	XP_011515437.1:p.Leu382Phe
XM_011517136.2:c.1090C>T	XP_011515438.1:p.Leu364Phe
XM_017013588.1:c.1252C>T	XP_016869077.1:p.Leu418Phe
NM_018444.4:c.1090C>T MANE Select	NP_060914.2:p.Leu364Phe
NM_001161780.2:c.1165C>T	NP_001155252.1:p.Leu389Phe
NM_001161781.2:c.1090C>T	NP_001155253.1:p.Leu364Phe
NM_001161779.2:c.1165C>T	NP_001155251.1:p.Leu389Phe