Canonical Allele Identifier: CA4808749

Gene: PDP1

Linked Data

• ClinVar Variation Id: 750269
• ClinVar RCV Id: RCV000927222
• dbSNP Id: rs201021364
• ExAC: 8:94935142 T / C
• gnomAD v2: 8-94935142-T-C
• gnomAD v3: 8-93922914-T-C
• gnomAD v4: 8-93922914-T-C
• COSMIC: COSM2791262 ; COSM2791263
• MyVariant Identifiers: chr8:g.94935142T>C (hg19) ; chr8:g.93922914T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93922914T>C , CM000670.2:g.93922914T>C	GRCh38
NC_000008.10:g.94935142T>C , CM000670.1:g.94935142T>C	GRCh37
NC_000008.9:g.95004318T>C	NCBI36
NG_012233.1:g.10981T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.855T>C MANE Select	ENSP00000297598.4:p.His285=
ENST00000297598.4:c.855T>C	ENSP00000297598.4:p.His285=
ENST00000396200.3:c.930T>C	ENSP00000379503.3:p.His310=
ENST00000517764.1:c.855T>C	ENSP00000430380.1:p.His285=
ENST00000520728.5:c.855T>C	ENSP00000428317.1:p.His285=
NM_001161779.1:c.930T>C	NP_001155251.1:p.His310=
NM_001161780.1:c.930T>C	NP_001155252.1:p.His310=
NM_001161781.1:c.855T>C	NP_001155253.1:p.His285=
NM_018444.3:c.855T>C	NP_060914.2:p.His285=
XM_011517135.1:c.909T>C	XP_011515437.1:p.His303=
XM_011517136.1:c.855T>C	XP_011515438.1:p.His285=
XM_011517137.1:c.855T>C	XP_011515439.1:p.His285=
XM_011517135.2:c.909T>C	XP_011515437.1:p.His303=
XM_011517136.2:c.855T>C	XP_011515438.1:p.His285=
XM_017013588.1:c.1017T>C	XP_016869077.1:p.His339=
NM_018444.4:c.855T>C MANE Select	NP_060914.2:p.His285=
NM_001161780.2:c.930T>C	NP_001155252.1:p.His310=
NM_001161781.2:c.855T>C	NP_001155253.1:p.His285=
NM_001161779.2:c.930T>C	NP_001155251.1:p.His310=