Canonical Allele Identifier: CA4808773

Gene: PDP1

Linked Data

• dbSNP Id: rs769128065
• ExAC: 8:94935299 G / A
• gnomAD v2: 8-94935299-G-A
• gnomAD v3: 8-93923071-G-A
• gnomAD v4: 8-93923071-G-A
• MyVariant Identifiers: chr8:g.94935299G>A (hg19) ; chr8:g.93923071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923071G>A , CM000670.2:g.93923071G>A	GRCh38
NC_000008.10:g.94935299G>A , CM000670.1:g.94935299G>A	GRCh37
NC_000008.9:g.95004475G>A	NCBI36
NG_012233.1:g.11138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1012G>A MANE Select	ENSP00000297598.4:p.Val338Met
ENST00000297598.4:c.1012G>A	ENSP00000297598.4:p.Val338Met
ENST00000396200.3:c.1087G>A	ENSP00000379503.3:p.Val363Met
ENST00000517764.1:c.1012G>A	ENSP00000430380.1:p.Val338Met
ENST00000520728.5:c.1012G>A	ENSP00000428317.1:p.Val338Met
NM_001161779.1:c.1087G>A	NP_001155251.1:p.Val363Met
NM_001161780.1:c.1087G>A	NP_001155252.1:p.Val363Met
NM_001161781.1:c.1012G>A	NP_001155253.1:p.Val338Met
NM_018444.3:c.1012G>A	NP_060914.2:p.Val338Met
XM_011517135.1:c.1066G>A	XP_011515437.1:p.Val356Met
XM_011517136.1:c.1012G>A	XP_011515438.1:p.Val338Met
XM_011517137.1:c.1012G>A	XP_011515439.1:p.Val338Met
XM_011517135.2:c.1066G>A	XP_011515437.1:p.Val356Met
XM_011517136.2:c.1012G>A	XP_011515438.1:p.Val338Met
XM_017013588.1:c.1174G>A	XP_016869077.1:p.Val392Met
NM_018444.4:c.1012G>A MANE Select	NP_060914.2:p.Val338Met
NM_001161780.2:c.1087G>A	NP_001155252.1:p.Val363Met
NM_001161781.2:c.1012G>A	NP_001155253.1:p.Val338Met
NM_001161779.2:c.1087G>A	NP_001155251.1:p.Val363Met