Canonical Allele Identifier: CA371695672

Gene: PDP1

Linked Data

• gnomAD v4: 8-93923159-G-C
• COSMIC: COSM751408 ; COSM1151190
• MyVariant Identifiers: chr8:g.94935387G>C (hg19) ; chr8:g.93923159G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923159G>C , CM000670.2:g.93923159G>C	GRCh38
NC_000008.10:g.94935387G>C , CM000670.1:g.94935387G>C	GRCh37
NC_000008.9:g.95004563G>C	NCBI36
NG_012233.1:g.11226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1100G>C MANE Select	ENSP00000297598.4:p.Arg367Thr
ENST00000297598.4:c.1100G>C	ENSP00000297598.4:p.Arg367Thr
ENST00000396200.3:c.1175G>C	ENSP00000379503.3:p.Arg392Thr
ENST00000517764.1:c.1100G>C	ENSP00000430380.1:p.Arg367Thr
ENST00000520728.5:c.1100G>C	ENSP00000428317.1:p.Arg367Thr
NM_001161779.1:c.1175G>C	NP_001155251.1:p.Arg392Thr
NM_001161780.1:c.1175G>C	NP_001155252.1:p.Arg392Thr
NM_001161781.1:c.1100G>C	NP_001155253.1:p.Arg367Thr
NM_018444.3:c.1100G>C	NP_060914.2:p.Arg367Thr
XM_011517135.1:c.1154G>C	XP_011515437.1:p.Arg385Thr
XM_011517136.1:c.1100G>C	XP_011515438.1:p.Arg367Thr
XM_011517137.1:c.1100G>C	XP_011515439.1:p.Arg367Thr
XM_011517135.2:c.1154G>C	XP_011515437.1:p.Arg385Thr
XM_011517136.2:c.1100G>C	XP_011515438.1:p.Arg367Thr
XM_017013588.1:c.1262G>C	XP_016869077.1:p.Arg421Thr
NM_018444.4:c.1100G>C MANE Select	NP_060914.2:p.Arg367Thr
NM_001161780.2:c.1175G>C	NP_001155252.1:p.Arg392Thr
NM_001161781.2:c.1100G>C	NP_001155253.1:p.Arg367Thr
NM_001161779.2:c.1175G>C	NP_001155251.1:p.Arg392Thr