Canonical Allele Identifier: CA371698129

Gene: PDP1

Linked Data

• gnomAD v4: 8-93923637-T-G
• MyVariant Identifiers: chr8:g.94935865T>G (hg19) ; chr8:g.93923637T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923637T>G , CM000670.2:g.93923637T>G	GRCh38
NC_000008.10:g.94935865T>G , CM000670.1:g.94935865T>G	GRCh37
NC_000008.9:g.95005041T>G	NCBI36
NG_012233.1:g.11704T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1578T>G MANE Select	ENSP00000297598.4:p.Asn526Lys
ENST00000297598.4:c.1578T>G	ENSP00000297598.4:p.Asn526Lys
ENST00000396200.3:c.1653T>G	ENSP00000379503.3:p.Asn551Lys
ENST00000517764.1:c.1578T>G	ENSP00000430380.1:p.Asn526Lys
ENST00000520728.5:c.1578T>G	ENSP00000428317.1:p.Asn526Lys
NM_001161779.1:c.1653T>G	NP_001155251.1:p.Asn551Lys
NM_001161780.1:c.1653T>G	NP_001155252.1:p.Asn551Lys
NM_001161781.1:c.1578T>G	NP_001155253.1:p.Asn526Lys
NM_018444.3:c.1578T>G	NP_060914.2:p.Asn526Lys
XM_011517135.1:c.1632T>G	XP_011515437.1:p.Asn544Lys
XM_011517136.1:c.1578T>G	XP_011515438.1:p.Asn526Lys
XM_011517137.1:c.1578T>G	XP_011515439.1:p.Asn526Lys
XM_011517135.2:c.1632T>G	XP_011515437.1:p.Asn544Lys
XM_011517136.2:c.1578T>G	XP_011515438.1:p.Asn526Lys
XM_017013588.1:c.1740T>G	XP_016869077.1:p.Asn580Lys
NM_018444.4:c.1578T>G MANE Select	NP_060914.2:p.Asn526Lys
NM_001161780.2:c.1653T>G	NP_001155252.1:p.Asn551Lys
NM_001161781.2:c.1578T>G	NP_001155253.1:p.Asn526Lys
NM_001161779.2:c.1653T>G	NP_001155251.1:p.Asn551Lys