Canonical Allele Identifier: CA371697930
Gene: PDP1 HGNC NCBI

Linked Data

gnomAD v4: 8-93923602-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93923602A>G , CM000670.2:g.93923602A>G GRCh38
NC_000008.10:g.94935830A>G , CM000670.1:g.94935830A>G GRCh37
NC_000008.9:g.95005006A>G NCBI36
NG_012233.1:g.11669A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297598.5:c.1543A>G MANE Select ENSP00000297598.4:p.Arg515Gly
ENST00000297598.4:c.1543A>G ENSP00000297598.4:p.Arg515Gly
ENST00000396200.3:c.1618A>G ENSP00000379503.3:p.Arg540Gly
ENST00000517764.1:c.1543A>G ENSP00000430380.1:p.Arg515Gly
ENST00000520728.5:c.1543A>G ENSP00000428317.1:p.Arg515Gly
NM_001161779.1:c.1618A>G NP_001155251.1:p.Arg540Gly
NM_001161780.1:c.1618A>G NP_001155252.1:p.Arg540Gly
NM_001161781.1:c.1543A>G NP_001155253.1:p.Arg515Gly
NM_018444.3:c.1543A>G NP_060914.2:p.Arg515Gly
XM_011517135.1:c.1597A>G XP_011515437.1:p.Arg533Gly
XM_011517136.1:c.1543A>G XP_011515438.1:p.Arg515Gly
XM_011517137.1:c.1543A>G XP_011515439.1:p.Arg515Gly
XM_011517135.2:c.1597A>G XP_011515437.1:p.Arg533Gly
XM_011517136.2:c.1543A>G XP_011515438.1:p.Arg515Gly
XM_017013588.1:c.1705A>G XP_016869077.1:p.Arg569Gly
NM_018444.4:c.1543A>G MANE Select NP_060914.2:p.Arg515Gly
NM_001161780.2:c.1618A>G NP_001155252.1:p.Arg540Gly
NM_001161781.2:c.1543A>G NP_001155253.1:p.Arg515Gly
NM_001161779.2:c.1618A>G NP_001155251.1:p.Arg540Gly