Canonical Allele Identifier: CA4808851
Gene: PDP1 HGNC NCBI

Linked Data

dbSNP Id: rs746369671
gnomAD v2: 8-94935866-T-C
gnomAD v4: 8-93923638-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93923638T>C , CM000670.2:g.93923638T>C GRCh38
NC_000008.10:g.94935866T>C , CM000670.1:g.94935866T>C GRCh37
NC_000008.9:g.95005042T>C NCBI36
NG_012233.1:g.11705T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297598.5:c.1579T>C MANE Select ENSP00000297598.4:p.Ser527Pro
ENST00000297598.4:c.1579T>C ENSP00000297598.4:p.Ser527Pro
ENST00000396200.3:c.1654T>C ENSP00000379503.3:p.Ser552Pro
ENST00000517764.1:c.1579T>C ENSP00000430380.1:p.Ser527Pro
ENST00000520728.5:c.1579T>C ENSP00000428317.1:p.Ser527Pro
NM_001161779.1:c.1654T>C NP_001155251.1:p.Ser552Pro
NM_001161780.1:c.1654T>C NP_001155252.1:p.Ser552Pro
NM_001161781.1:c.1579T>C NP_001155253.1:p.Ser527Pro
NM_018444.3:c.1579T>C NP_060914.2:p.Ser527Pro
XM_011517135.1:c.1633T>C XP_011515437.1:p.Ser545Pro
XM_011517136.1:c.1579T>C XP_011515438.1:p.Ser527Pro
XM_011517137.1:c.1579T>C XP_011515439.1:p.Ser527Pro
XM_011517135.2:c.1633T>C XP_011515437.1:p.Ser545Pro
XM_011517136.2:c.1579T>C XP_011515438.1:p.Ser527Pro
XM_017013588.1:c.1741T>C XP_016869077.1:p.Ser581Pro
NM_018444.4:c.1579T>C MANE Select NP_060914.2:p.Ser527Pro
NM_001161780.2:c.1654T>C NP_001155252.1:p.Ser552Pro
NM_001161781.2:c.1579T>C NP_001155253.1:p.Ser527Pro
NM_001161779.2:c.1654T>C NP_001155251.1:p.Ser552Pro