Canonical Allele Identifier: CA4808820
Gene: PDP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2856205
ClinVar RCV Id: RCV003696324
dbSNP Id: rs760576538
gnomAD v2: 8-94935685-A-G
gnomAD v4: 8-93923457-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93923457A>G , CM000670.2:g.93923457A>G GRCh38
NC_000008.10:g.94935685A>G , CM000670.1:g.94935685A>G GRCh37
NC_000008.9:g.95004861A>G NCBI36
NG_012233.1:g.11524A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297598.5:c.1398A>G MANE Select ENSP00000297598.4:p.Arg466=
ENST00000297598.4:c.1398A>G ENSP00000297598.4:p.Arg466=
ENST00000396200.3:c.1473A>G ENSP00000379503.3:p.Arg491=
ENST00000517764.1:c.1398A>G ENSP00000430380.1:p.Arg466=
ENST00000520728.5:c.1398A>G ENSP00000428317.1:p.Arg466=
NM_001161779.1:c.1473A>G NP_001155251.1:p.Arg491=
NM_001161780.1:c.1473A>G NP_001155252.1:p.Arg491=
NM_001161781.1:c.1398A>G NP_001155253.1:p.Arg466=
NM_018444.3:c.1398A>G NP_060914.2:p.Arg466=
XM_011517135.1:c.1452A>G XP_011515437.1:p.Arg484=
XM_011517136.1:c.1398A>G XP_011515438.1:p.Arg466=
XM_011517137.1:c.1398A>G XP_011515439.1:p.Arg466=
XM_011517135.2:c.1452A>G XP_011515437.1:p.Arg484=
XM_011517136.2:c.1398A>G XP_011515438.1:p.Arg466=
XM_017013588.1:c.1560A>G XP_016869077.1:p.Arg520=
NM_018444.4:c.1398A>G MANE Select NP_060914.2:p.Arg466=
NM_001161780.2:c.1473A>G NP_001155252.1:p.Arg491=
NM_001161781.2:c.1398A>G NP_001155253.1:p.Arg466=
NM_001161779.2:c.1473A>G NP_001155251.1:p.Arg491=