Canonical Allele Identifier: CA371694394
Gene: PDP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93922894G>C , CM000670.2:g.93922894G>C GRCh38
NC_000008.10:g.94935122G>C , CM000670.1:g.94935122G>C GRCh37
NC_000008.9:g.95004298G>C NCBI36
NG_012233.1:g.10961G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297598.5:c.835G>C MANE Select ENSP00000297598.4:p.Val279Leu
ENST00000297598.4:c.835G>C ENSP00000297598.4:p.Val279Leu
ENST00000396200.3:c.910G>C ENSP00000379503.3:p.Val304Leu
ENST00000517764.1:c.835G>C ENSP00000430380.1:p.Val279Leu
ENST00000520728.5:c.835G>C ENSP00000428317.1:p.Val279Leu
NM_001161779.1:c.910G>C NP_001155251.1:p.Val304Leu
NM_001161780.1:c.910G>C NP_001155252.1:p.Val304Leu
NM_001161781.1:c.835G>C NP_001155253.1:p.Val279Leu
NM_018444.3:c.835G>C NP_060914.2:p.Val279Leu
XM_011517135.1:c.889G>C XP_011515437.1:p.Val297Leu
XM_011517136.1:c.835G>C XP_011515438.1:p.Val279Leu
XM_011517137.1:c.835G>C XP_011515439.1:p.Val279Leu
XM_011517135.2:c.889G>C XP_011515437.1:p.Val297Leu
XM_011517136.2:c.835G>C XP_011515438.1:p.Val279Leu
XM_017013588.1:c.997G>C XP_016869077.1:p.Val333Leu
NM_018444.4:c.835G>C MANE Select NP_060914.2:p.Val279Leu
NM_001161780.2:c.910G>C NP_001155252.1:p.Val304Leu
NM_001161781.2:c.835G>C NP_001155253.1:p.Val279Leu
NM_001161779.2:c.910G>C NP_001155251.1:p.Val304Leu