Canonical Allele Identifier: CA371697605
Gene: PDP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93923535T>G , CM000670.2:g.93923535T>G GRCh38
NC_000008.10:g.94935763T>G , CM000670.1:g.94935763T>G GRCh37
NC_000008.9:g.95004939T>G NCBI36
NG_012233.1:g.11602T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297598.5:c.1476T>G MANE Select ENSP00000297598.4:p.Phe492Leu
ENST00000297598.4:c.1476T>G ENSP00000297598.4:p.Phe492Leu
ENST00000396200.3:c.1551T>G ENSP00000379503.3:p.Phe517Leu
ENST00000517764.1:c.1476T>G ENSP00000430380.1:p.Phe492Leu
ENST00000520728.5:c.1476T>G ENSP00000428317.1:p.Phe492Leu
NM_001161779.1:c.1551T>G NP_001155251.1:p.Phe517Leu
NM_001161780.1:c.1551T>G NP_001155252.1:p.Phe517Leu
NM_001161781.1:c.1476T>G NP_001155253.1:p.Phe492Leu
NM_018444.3:c.1476T>G NP_060914.2:p.Phe492Leu
XM_011517135.1:c.1530T>G XP_011515437.1:p.Phe510Leu
XM_011517136.1:c.1476T>G XP_011515438.1:p.Phe492Leu
XM_011517137.1:c.1476T>G XP_011515439.1:p.Phe492Leu
XM_011517135.2:c.1530T>G XP_011515437.1:p.Phe510Leu
XM_011517136.2:c.1476T>G XP_011515438.1:p.Phe492Leu
XM_017013588.1:c.1638T>G XP_016869077.1:p.Phe546Leu
NM_018444.4:c.1476T>G MANE Select NP_060914.2:p.Phe492Leu
NM_001161780.2:c.1551T>G NP_001155252.1:p.Phe517Leu
NM_001161781.2:c.1476T>G NP_001155253.1:p.Phe492Leu
NM_001161779.2:c.1551T>G NP_001155251.1:p.Phe517Leu