Canonical Allele Identifier: CA4808856
Gene: PDP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214971
dbSNP Id: rs768767735
gnomAD v2: 8-94935882-C-T
gnomAD v4: 8-93923654-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93923654C>T , CM000670.2:g.93923654C>T GRCh38
NC_000008.10:g.94935882C>T , CM000670.1:g.94935882C>T GRCh37
NC_000008.9:g.95005058C>T NCBI36
NG_012233.1:g.11721C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297598.5:c.1595C>T MANE Select ENSP00000297598.4:p.Ala532Val
ENST00000297598.4:c.1595C>T ENSP00000297598.4:p.Ala532Val
ENST00000396200.3:c.1670C>T ENSP00000379503.3:p.Ala557Val
ENST00000517764.1:c.1595C>T ENSP00000430380.1:p.Ala532Val
ENST00000520728.5:c.1595C>T ENSP00000428317.1:p.Ala532Val
NM_001161779.1:c.1670C>T NP_001155251.1:p.Ala557Val
NM_001161780.1:c.1670C>T NP_001155252.1:p.Ala557Val
NM_001161781.1:c.1595C>T NP_001155253.1:p.Ala532Val
NM_018444.3:c.1595C>T NP_060914.2:p.Ala532Val
XM_011517135.1:c.1649C>T XP_011515437.1:p.Ala550Val
XM_011517136.1:c.1595C>T XP_011515438.1:p.Ala532Val
XM_011517137.1:c.1595C>T XP_011515439.1:p.Ala532Val
XM_011517135.2:c.1649C>T XP_011515437.1:p.Ala550Val
XM_011517136.2:c.1595C>T XP_011515438.1:p.Ala532Val
XM_017013588.1:c.1757C>T XP_016869077.1:p.Ala586Val
NM_018444.4:c.1595C>T MANE Select NP_060914.2:p.Ala532Val
NM_001161780.2:c.1670C>T NP_001155252.1:p.Ala557Val
NM_001161781.2:c.1595C>T NP_001155253.1:p.Ala532Val
NM_001161779.2:c.1670C>T NP_001155251.1:p.Ala557Val