Canonical Allele Identifier: CA405219759
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387474A>T , CM000681.2:g.33387474A>T GRCh38
NC_000019.9:g.33878380A>T , CM000681.1:g.33878380A>T GRCh37
NC_000019.8:g.38570220A>T NCBI36
NG_013358.1:g.139420T>A
NG_013358.2:g.139420T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000588328.7:c.1418T>A ENSP00000468516.4:p.Ile473Asn
ENST00000651901.2:c.1442T>A ENSP00000498922.2:p.Ile481Asn
ENST00000698359.1:c.1307T>A ENSP00000513682.1:p.Ile436Asn
ENST00000698360.1:c.1403T>A ENSP00000513683.1:p.Ile468Asn
ENST00000698361.1:c.1468T>A ENSP00000513684.1:p.Ser490Thr
ENST00000698362.1:c.*489T>A ENSP00000513685.1:n.*489T>A
ENST00000698426.1:c.1031T>A ENSP00000513713.1:p.Ile344Asn
ENST00000698427.1:c.1394T>A ENSP00000513714.1:p.Ile465Asn
ENST00000698428.1:c.1031T>A ENSP00000513715.1:p.Ile344Asn
ENST00000698429.1:n.1235T>A
ENST00000698430.1:c.1602T>A
ENST00000698431.1:c.1089T>A ENSP00000513717.1:n.1089T>A
ENST00000698432.1:c.1161T>A
ENST00000698433.1:n.814T>A
ENST00000244137.12:c.1352T>A MANE Select ENSP00000244137.5:p.Ile451Asn
ENST00000588328.6:c.1407T>A
ENST00000651901.1:c.1438T>A
ENST00000244137.11:c.1352T>A ENSP00000244137.5:p.Ile451Asn
ENST00000397032.8:c.1229T>A ENSP00000380226.3:p.Ile410Asn
ENST00000436370.7:c.1160T>A ENSP00000391890.2:p.Ile387Asn
ENST00000589598.5:n.77T>A
ENST00000591968.1:n.424T>A
ENST00000593085.1:n.1239T>A
NM_000285.3:c.1352T>A NP_000276.2:p.Ile451Asn
NM_001166056.1:c.1229T>A NP_001159528.1:p.Ile410Asn
NM_001166057.1:c.1160T>A NP_001159529.1:p.Ile387Asn
NM_000285.4:c.1352T>A MANE Select NP_000276.2:p.Ile451Asn
NM_001166056.2:c.1229T>A NP_001159528.1:p.Ile410Asn
NM_001166057.2:c.1160T>A NP_001159529.1:p.Ile387Asn