Canonical Allele Identifier: CA371697171
Gene: PDP1 HGNC NCBI

Linked Data

dbSNP Id: rs749959908
gnomAD v2: 8-94935710-G-A
gnomAD v3: 8-93923482-G-A
gnomAD v4: 8-93923482-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93923482G>A , CM000670.2:g.93923482G>A GRCh38
NC_000008.10:g.94935710G>A , CM000670.1:g.94935710G>A GRCh37
NC_000008.9:g.95004886G>A NCBI36
NG_012233.1:g.11549G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297598.5:c.1423G>A MANE Select ENSP00000297598.4:p.Asp475Asn
ENST00000297598.4:c.1423G>A ENSP00000297598.4:p.Asp475Asn
ENST00000396200.3:c.1498G>A ENSP00000379503.3:p.Asp500Asn
ENST00000517764.1:c.1423G>A ENSP00000430380.1:p.Asp475Asn
ENST00000520728.5:c.1423G>A ENSP00000428317.1:p.Asp475Asn
NM_001161779.1:c.1498G>A NP_001155251.1:p.Asp500Asn
NM_001161780.1:c.1498G>A NP_001155252.1:p.Asp500Asn
NM_001161781.1:c.1423G>A NP_001155253.1:p.Asp475Asn
NM_018444.3:c.1423G>A NP_060914.2:p.Asp475Asn
XM_011517135.1:c.1477G>A XP_011515437.1:p.Asp493Asn
XM_011517136.1:c.1423G>A XP_011515438.1:p.Asp475Asn
XM_011517137.1:c.1423G>A XP_011515439.1:p.Asp475Asn
XM_011517135.2:c.1477G>A XP_011515437.1:p.Asp493Asn
XM_011517136.2:c.1423G>A XP_011515438.1:p.Asp475Asn
XM_017013588.1:c.1585G>A XP_016869077.1:p.Asp529Asn
NM_018444.4:c.1423G>A MANE Select NP_060914.2:p.Asp475Asn
NM_001161780.2:c.1498G>A NP_001155252.1:p.Asp500Asn
NM_001161781.2:c.1423G>A NP_001155253.1:p.Asp475Asn
NM_001161779.2:c.1498G>A NP_001155251.1:p.Asp500Asn