Canonical Allele Identifier: CA181376423

Gene: PDP1

Linked Data

• dbSNP Id: rs202225648
• gnomAD v4: 8-93923593-C-T
• MyVariant Identifiers: chr8:g.94935821C>T (hg19) ; chr8:g.93923593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923593C>T , CM000670.2:g.93923593C>T	GRCh38
NC_000008.10:g.94935821C>T , CM000670.1:g.94935821C>T	GRCh37
NC_000008.9:g.95004997C>T	NCBI36
NG_012233.1:g.11660C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1534C>T MANE Select	ENSP00000297598.4:p.Arg512Ter
ENST00000297598.4:c.1534C>T	ENSP00000297598.4:p.Arg512Ter
ENST00000396200.3:c.1609C>T	ENSP00000379503.3:p.Arg537Ter
ENST00000517764.1:c.1534C>T	ENSP00000430380.1:p.Arg512Ter
ENST00000520728.5:c.1534C>T	ENSP00000428317.1:p.Arg512Ter
NM_001161779.1:c.1609C>T	NP_001155251.1:p.Arg537Ter
NM_001161780.1:c.1609C>T	NP_001155252.1:p.Arg537Ter
NM_001161781.1:c.1534C>T	NP_001155253.1:p.Arg512Ter
NM_018444.3:c.1534C>T	NP_060914.2:p.Arg512Ter
XM_011517135.1:c.1588C>T	XP_011515437.1:p.Arg530Ter
XM_011517136.1:c.1534C>T	XP_011515438.1:p.Arg512Ter
XM_011517137.1:c.1534C>T	XP_011515439.1:p.Arg512Ter
XM_011517135.2:c.1588C>T	XP_011515437.1:p.Arg530Ter
XM_011517136.2:c.1534C>T	XP_011515438.1:p.Arg512Ter
XM_017013588.1:c.1696C>T	XP_016869077.1:p.Arg566Ter
NM_018444.4:c.1534C>T MANE Select	NP_060914.2:p.Arg512Ter
NM_001161780.2:c.1609C>T	NP_001155252.1:p.Arg537Ter
NM_001161781.2:c.1534C>T	NP_001155253.1:p.Arg512Ter
NM_001161779.2:c.1609C>T	NP_001155251.1:p.Arg537Ter