Canonical Allele Identifier: CA371696458
Gene: PDP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93923339A>T , CM000670.2:g.93923339A>T GRCh38
NC_000008.10:g.94935567A>T , CM000670.1:g.94935567A>T GRCh37
NC_000008.9:g.95004743A>T NCBI36
NG_012233.1:g.11406A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297598.5:c.1280A>T MANE Select ENSP00000297598.4:p.Gln427Leu
ENST00000297598.4:c.1280A>T ENSP00000297598.4:p.Gln427Leu
ENST00000396200.3:c.1355A>T ENSP00000379503.3:p.Gln452Leu
ENST00000517764.1:c.1280A>T ENSP00000430380.1:p.Gln427Leu
ENST00000520728.5:c.1280A>T ENSP00000428317.1:p.Gln427Leu
NM_001161779.1:c.1355A>T NP_001155251.1:p.Gln452Leu
NM_001161780.1:c.1355A>T NP_001155252.1:p.Gln452Leu
NM_001161781.1:c.1280A>T NP_001155253.1:p.Gln427Leu
NM_018444.3:c.1280A>T NP_060914.2:p.Gln427Leu
XM_011517135.1:c.1334A>T XP_011515437.1:p.Gln445Leu
XM_011517136.1:c.1280A>T XP_011515438.1:p.Gln427Leu
XM_011517137.1:c.1280A>T XP_011515439.1:p.Gln427Leu
XM_011517135.2:c.1334A>T XP_011515437.1:p.Gln445Leu
XM_011517136.2:c.1280A>T XP_011515438.1:p.Gln427Leu
XM_017013588.1:c.1442A>T XP_016869077.1:p.Gln481Leu
NM_018444.4:c.1280A>T MANE Select NP_060914.2:p.Gln427Leu
NM_001161780.2:c.1355A>T NP_001155252.1:p.Gln452Leu
NM_001161781.2:c.1280A>T NP_001155253.1:p.Gln427Leu
NM_001161779.2:c.1355A>T NP_001155251.1:p.Gln452Leu