Canonical Allele Identifier: CA339805
Gene: PEPD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 218
ClinVar RCV Id: RCV000000242
dbSNP Id: rs267606943

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33464006G>A , CM000681.2:g.33464006G>A GRCh38
NC_000019.9:g.33954912G>A , CM000681.1:g.33954912G>A GRCh37
NC_000019.8:g.38646752G>A NCBI36
NG_013358.1:g.62888C>T
NG_013358.2:g.62888C>T

Transcript Alleles

HGVS Amino-acid change
NM_000285.3:c.605C>T VV NP_000276.2:p.Ser202Phe
NM_001166056.1:c.548+14040C>T VV NP_001159528.1:p.=
NM_001166057.1:c.413C>T VV NP_001159529.1:p.Ser138Phe
NM_000285.4:c.605C>T VV MANE Preferred
ENST00000244137.11:c.605C>T ENSP00000244137.5:p.Ser202Phe
ENST00000397032.8:c.548+14040C>T ENSP00000380226.3:p.=
ENST00000436370.7:c.413C>T ENSP00000391890.2:p.Ser138Phe
ENST00000588328.5:n.96C>T
ENST00000588719.5:n.240C>T
ENST00000590408.1:n.323C>T
ENST00000590731.5:n.280C>T
ENST00000590755.6:n.432C>T ENSP00000476667.1:p.=
ENST00000593163.5:n.770C>T
ENST00000609145.5:c.38C>T ENSP00000476514.1:p.Ser13Phe