Canonical Allele Identifier: CA181375865

Gene: PDP1

Linked Data

• dbSNP Id: rs370143029
• gnomAD v4: 8-93923026-G-C
• MyVariant Identifiers: chr8:g.94935254G>C (hg19) ; chr8:g.93923026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923026G>C , CM000670.2:g.93923026G>C	GRCh38
NC_000008.10:g.94935254G>C , CM000670.1:g.94935254G>C	GRCh37
NC_000008.9:g.95004430G>C	NCBI36
NG_012233.1:g.11093G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.967G>C MANE Select	ENSP00000297598.4:p.Glu323Gln
ENST00000297598.4:c.967G>C	ENSP00000297598.4:p.Glu323Gln
ENST00000396200.3:c.1042G>C	ENSP00000379503.3:p.Glu348Gln
ENST00000517764.1:c.967G>C	ENSP00000430380.1:p.Glu323Gln
ENST00000520728.5:c.967G>C	ENSP00000428317.1:p.Glu323Gln
NM_001161779.1:c.1042G>C	NP_001155251.1:p.Glu348Gln
NM_001161780.1:c.1042G>C	NP_001155252.1:p.Glu348Gln
NM_001161781.1:c.967G>C	NP_001155253.1:p.Glu323Gln
NM_018444.3:c.967G>C	NP_060914.2:p.Glu323Gln
XM_011517135.1:c.1021G>C	XP_011515437.1:p.Glu341Gln
XM_011517136.1:c.967G>C	XP_011515438.1:p.Glu323Gln
XM_011517137.1:c.967G>C	XP_011515439.1:p.Glu323Gln
XM_011517135.2:c.1021G>C	XP_011515437.1:p.Glu341Gln
XM_011517136.2:c.967G>C	XP_011515438.1:p.Glu323Gln
XM_017013588.1:c.1129G>C	XP_016869077.1:p.Glu377Gln
NM_018444.4:c.967G>C MANE Select	NP_060914.2:p.Glu323Gln
NM_001161780.2:c.1042G>C	NP_001155252.1:p.Glu348Gln
NM_001161781.2:c.967G>C	NP_001155253.1:p.Glu323Gln
NM_001161779.2:c.1042G>C	NP_001155251.1:p.Glu348Gln