Canonical Allele Identifier: CA181375995
Gene: PDP1 HGNC NCBI

Linked Data

dbSNP Id: rs769050733
gnomAD v2: 8-94935355-A-G
gnomAD v4: 8-93923127-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93923127A>G , CM000670.2:g.93923127A>G GRCh38
NC_000008.10:g.94935355A>G , CM000670.1:g.94935355A>G GRCh37
NC_000008.9:g.95004531A>G NCBI36
NG_012233.1:g.11194A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297598.5:c.1068A>G MANE Select ENSP00000297598.4:p.Val356=
ENST00000297598.4:c.1068A>G ENSP00000297598.4:p.Val356=
ENST00000396200.3:c.1143A>G ENSP00000379503.3:p.Val381=
ENST00000517764.1:c.1068A>G ENSP00000430380.1:p.Val356=
ENST00000520728.5:c.1068A>G ENSP00000428317.1:p.Val356=
NM_001161779.1:c.1143A>G NP_001155251.1:p.Val381=
NM_001161780.1:c.1143A>G NP_001155252.1:p.Val381=
NM_001161781.1:c.1068A>G NP_001155253.1:p.Val356=
NM_018444.3:c.1068A>G NP_060914.2:p.Val356=
XM_011517135.1:c.1122A>G XP_011515437.1:p.Val374=
XM_011517136.1:c.1068A>G XP_011515438.1:p.Val356=
XM_011517137.1:c.1068A>G XP_011515439.1:p.Val356=
XM_011517135.2:c.1122A>G XP_011515437.1:p.Val374=
XM_011517136.2:c.1068A>G XP_011515438.1:p.Val356=
XM_017013588.1:c.1230A>G XP_016869077.1:p.Val410=
NM_018444.4:c.1068A>G MANE Select NP_060914.2:p.Val356=
NM_001161780.2:c.1143A>G NP_001155252.1:p.Val381=
NM_001161781.2:c.1068A>G NP_001155253.1:p.Val356=
NM_001161779.2:c.1143A>G NP_001155251.1:p.Val381=