Canonical Allele Identifier: CA371691044
Gene: PDP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1998824
ClinVar RCV Id: RCV002814940

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93922182G>T , CM000670.2:g.93922182G>T GRCh38
NC_000008.10:g.94934410G>T , CM000670.1:g.94934410G>T GRCh37
NC_000008.9:g.95003586G>T NCBI36
NG_012233.1:g.10249G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297598.5:c.123G>T MANE Select ENSP00000297598.4:p.Gln41His
ENST00000297598.4:c.123G>T ENSP00000297598.4:p.Gln41His
ENST00000396200.3:c.198G>T ENSP00000379503.3:p.Gln66His
ENST00000517764.1:c.123G>T ENSP00000430380.1:p.Gln41His
ENST00000518107.5:c.123G>T ENSP00000430366.1:p.Gln41His
ENST00000518573.1:c.123G>T ENSP00000428433.1:p.Gln41His
ENST00000518827.1:c.123G>T ENSP00000430655.1:p.Gln41His
ENST00000520614.1:c.123G>T ENSP00000430931.1:p.Gln41His
ENST00000520728.5:c.123G>T ENSP00000428317.1:p.Gln41His
ENST00000521144.1:c.123G>T ENSP00000429492.1:p.Gln41His
NM_001161779.1:c.198G>T NP_001155251.1:p.Gln66His
NM_001161780.1:c.198G>T NP_001155252.1:p.Gln66His
NM_001161781.1:c.123G>T NP_001155253.1:p.Gln41His
NM_018444.3:c.123G>T NP_060914.2:p.Gln41His
XM_011517135.1:c.177G>T XP_011515437.1:p.Gln59His
XM_011517136.1:c.123G>T XP_011515438.1:p.Gln41His
XM_011517137.1:c.123G>T XP_011515439.1:p.Gln41His
XM_011517135.2:c.177G>T XP_011515437.1:p.Gln59His
XM_011517136.2:c.123G>T XP_011515438.1:p.Gln41His
XM_017013588.1:c.285G>T XP_016869077.1:p.Gln95His
NM_018444.4:c.123G>T MANE Select NP_060914.2:p.Gln41His
NM_001161780.2:c.198G>T NP_001155252.1:p.Gln66His
NM_001161781.2:c.123G>T NP_001155253.1:p.Gln41His
NM_001161779.2:c.198G>T NP_001155251.1:p.Gln66His