Canonical Allele Identifier: CA371695664

Gene: PDP1

Linked Data

• gnomAD v4: 8-93923157-G-C
• COSMIC: COSM4831877 ; COSM4831878
• MyVariant Identifiers: chr8:g.94935385G>C (hg19) ; chr8:g.93923157G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923157G>C , CM000670.2:g.93923157G>C	GRCh38
NC_000008.10:g.94935385G>C , CM000670.1:g.94935385G>C	GRCh37
NC_000008.9:g.95004561G>C	NCBI36
NG_012233.1:g.11224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1098G>C MANE Select	ENSP00000297598.4:p.Lys366Asn
ENST00000297598.4:c.1098G>C	ENSP00000297598.4:p.Lys366Asn
ENST00000396200.3:c.1173G>C	ENSP00000379503.3:p.Lys391Asn
ENST00000517764.1:c.1098G>C	ENSP00000430380.1:p.Lys366Asn
ENST00000520728.5:c.1098G>C	ENSP00000428317.1:p.Lys366Asn
NM_001161779.1:c.1173G>C	NP_001155251.1:p.Lys391Asn
NM_001161780.1:c.1173G>C	NP_001155252.1:p.Lys391Asn
NM_001161781.1:c.1098G>C	NP_001155253.1:p.Lys366Asn
NM_018444.3:c.1098G>C	NP_060914.2:p.Lys366Asn
XM_011517135.1:c.1152G>C	XP_011515437.1:p.Lys384Asn
XM_011517136.1:c.1098G>C	XP_011515438.1:p.Lys366Asn
XM_011517137.1:c.1098G>C	XP_011515439.1:p.Lys366Asn
XM_011517135.2:c.1152G>C	XP_011515437.1:p.Lys384Asn
XM_011517136.2:c.1098G>C	XP_011515438.1:p.Lys366Asn
XM_017013588.1:c.1260G>C	XP_016869077.1:p.Lys420Asn
NM_018444.4:c.1098G>C MANE Select	NP_060914.2:p.Lys366Asn
NM_001161780.2:c.1173G>C	NP_001155252.1:p.Lys391Asn
NM_001161781.2:c.1098G>C	NP_001155253.1:p.Lys366Asn
NM_001161779.2:c.1173G>C	NP_001155251.1:p.Lys391Asn