Canonical Allele Identifier: CA371698216

Gene: PDP1

Linked Data

• ClinVar Variation Id: 559382
• ClinVar RCV Id: RCV000677085
• dbSNP Id: rs1554572967
• gnomAD v4: 8-93923656-T-C
• MyVariant Identifiers: chr8:g.94935884T>C (hg19) ; chr8:g.93923656T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923656T>C , CM000670.2:g.93923656T>C	GRCh38
NC_000008.10:g.94935884T>C , CM000670.1:g.94935884T>C	GRCh37
NC_000008.9:g.95005060T>C	NCBI36
NG_012233.1:g.11723T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1597T>C MANE Select	ENSP00000297598.4:p.Tyr533His
ENST00000297598.4:c.1597T>C	ENSP00000297598.4:p.Tyr533His
ENST00000396200.3:c.1672T>C	ENSP00000379503.3:p.Tyr558His
ENST00000517764.1:c.1597T>C	ENSP00000430380.1:p.Tyr533His
ENST00000520728.5:c.1597T>C	ENSP00000428317.1:p.Tyr533His
NM_001161779.1:c.1672T>C	NP_001155251.1:p.Tyr558His
NM_001161780.1:c.1672T>C	NP_001155252.1:p.Tyr558His
NM_001161781.1:c.1597T>C	NP_001155253.1:p.Tyr533His
NM_018444.3:c.1597T>C	NP_060914.2:p.Tyr533His
XM_011517135.1:c.1651T>C	XP_011515437.1:p.Tyr551His
XM_011517136.1:c.1597T>C	XP_011515438.1:p.Tyr533His
XM_011517137.1:c.1597T>C	XP_011515439.1:p.Tyr533His
XM_011517135.2:c.1651T>C	XP_011515437.1:p.Tyr551His
XM_011517136.2:c.1597T>C	XP_011515438.1:p.Tyr533His
XM_017013588.1:c.1759T>C	XP_016869077.1:p.Tyr587His
NM_018444.4:c.1597T>C MANE Select	NP_060914.2:p.Tyr533His
NM_001161780.2:c.1672T>C	NP_001155252.1:p.Tyr558His
NM_001161781.2:c.1597T>C	NP_001155253.1:p.Tyr533His
NM_001161779.2:c.1672T>C	NP_001155251.1:p.Tyr558His