Canonical Allele Identifier: CA405224175
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33401762A>T , CM000681.2:g.33401762A>T GRCh38
NC_000019.9:g.33892668A>T , CM000681.1:g.33892668A>T GRCh37
NC_000019.8:g.38584508A>T NCBI36
NG_013358.1:g.125132T>A
NG_013358.2:g.125132T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000588328.7:c.926T>A ENSP00000468516.4:p.Val309Glu
ENST00000651901.2:c.926T>A ENSP00000498922.2:p.Val309Glu
ENST00000698359.1:c.881T>A ENSP00000513682.1:p.Val294Glu
ENST00000698360.1:c.977T>A ENSP00000513683.1:p.Val326Glu
ENST00000698361.1:c.926T>A ENSP00000513684.1:p.Val309Glu
ENST00000698362.1:c.926T>A ENSP00000513685.1:p.Val309Glu
ENST00000698363.1:n.989T>A
ENST00000698364.1:n.989T>A
ENST00000698365.1:n.989T>A
ENST00000698426.1:c.605T>A ENSP00000513713.1:p.Val202Glu
ENST00000698427.1:c.968T>A ENSP00000513714.1:p.Val323Glu
ENST00000698428.1:c.605T>A ENSP00000513715.1:p.Val202Glu
ENST00000698429.1:n.809T>A
ENST00000698430.1:c.1176T>A
ENST00000698431.1:c.663T>A ENSP00000513717.1:n.663T>A
ENST00000698432.1:c.735T>A
ENST00000698433.1:n.388T>A
ENST00000698434.1:n.413T>A
ENST00000244137.12:c.926T>A MANE Select ENSP00000244137.5:p.Val309Glu
ENST00000588328.6:c.915T>A
ENST00000590731.6:n.601T>A
ENST00000651901.1:c.922T>A
ENST00000244137.11:c.926T>A ENSP00000244137.5:p.Val309Glu
ENST00000397032.8:c.803T>A ENSP00000380226.3:p.Val268Glu
ENST00000436370.7:c.734T>A ENSP00000391890.2:p.Val245Glu
ENST00000588328.5:c.417T>A
NM_000285.3:c.926T>A NP_000276.2:p.Val309Glu
NM_001166056.1:c.803T>A NP_001159528.1:p.Val268Glu
NM_001166057.1:c.734T>A NP_001159529.1:p.Val245Glu
NM_000285.4:c.926T>A MANE Select NP_000276.2:p.Val309Glu
NM_001166056.2:c.803T>A NP_001159528.1:p.Val268Glu
NM_001166057.2:c.734T>A NP_001159529.1:p.Val245Glu