Canonical Allele Identifier: CA371697387

Gene: PDP1

Linked Data

• dbSNP Id: rs370390664
• gnomAD v3: 8-93923506-A-C
• gnomAD v4: 8-93923506-A-C
• MyVariant Identifiers: chr8:g.94935734A>C (hg19) ; chr8:g.93923506A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923506A>C , CM000670.2:g.93923506A>C	GRCh38
NC_000008.10:g.94935734A>C , CM000670.1:g.94935734A>C	GRCh37
NC_000008.9:g.95004910A>C	NCBI36
NG_012233.1:g.11573A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1447A>C MANE Select	ENSP00000297598.4:p.Ile483Leu
ENST00000297598.4:c.1447A>C	ENSP00000297598.4:p.Ile483Leu
ENST00000396200.3:c.1522A>C	ENSP00000379503.3:p.Ile508Leu
ENST00000517764.1:c.1447A>C	ENSP00000430380.1:p.Ile483Leu
ENST00000520728.5:c.1447A>C	ENSP00000428317.1:p.Ile483Leu
NM_001161779.1:c.1522A>C	NP_001155251.1:p.Ile508Leu
NM_001161780.1:c.1522A>C	NP_001155252.1:p.Ile508Leu
NM_001161781.1:c.1447A>C	NP_001155253.1:p.Ile483Leu
NM_018444.3:c.1447A>C	NP_060914.2:p.Ile483Leu
XM_011517135.1:c.1501A>C	XP_011515437.1:p.Ile501Leu
XM_011517136.1:c.1447A>C	XP_011515438.1:p.Ile483Leu
XM_011517137.1:c.1447A>C	XP_011515439.1:p.Ile483Leu
XM_011517135.2:c.1501A>C	XP_011515437.1:p.Ile501Leu
XM_011517136.2:c.1447A>C	XP_011515438.1:p.Ile483Leu
XM_017013588.1:c.1609A>C	XP_016869077.1:p.Ile537Leu
NM_018444.4:c.1447A>C MANE Select	NP_060914.2:p.Ile483Leu
NM_001161780.2:c.1522A>C	NP_001155252.1:p.Ile508Leu
NM_001161781.2:c.1447A>C	NP_001155253.1:p.Ile483Leu
NM_001161779.2:c.1522A>C	NP_001155251.1:p.Ile508Leu