Canonical Allele Identifier: CA405224169
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000588328.7:c.926T>G ENSP00000468516.4:p.Val309Gly
ENST00000651901.2:c.926T>G ENSP00000498922.2:p.Val309Gly
ENST00000698359.1:c.881T>G ENSP00000513682.1:p.Val294Gly
ENST00000698360.1:c.977T>G ENSP00000513683.1:p.Val326Gly
ENST00000698361.1:c.926T>G ENSP00000513684.1:p.Val309Gly
ENST00000698362.1:c.926T>G ENSP00000513685.1:p.Val309Gly
ENST00000698363.1:n.989T>G
ENST00000698364.1:n.989T>G
ENST00000698365.1:n.989T>G
ENST00000698426.1:c.605T>G ENSP00000513713.1:p.Val202Gly
ENST00000698427.1:c.968T>G ENSP00000513714.1:p.Val323Gly
ENST00000698428.1:c.605T>G ENSP00000513715.1:p.Val202Gly
ENST00000698429.1:n.809T>G
ENST00000698430.1:c.1176T>G
ENST00000698431.1:c.663T>G ENSP00000513717.1:n.663T>G
ENST00000698432.1:c.735T>G
ENST00000698433.1:n.388T>G
ENST00000698434.1:n.413T>G
ENST00000244137.12:c.926T>G MANE Select ENSP00000244137.5:p.Val309Gly
ENST00000588328.6:c.915T>G
ENST00000590731.6:n.601T>G
ENST00000651901.1:c.922T>G
ENST00000244137.11:c.926T>G ENSP00000244137.5:p.Val309Gly
ENST00000397032.8:c.803T>G ENSP00000380226.3:p.Val268Gly
ENST00000436370.7:c.734T>G ENSP00000391890.2:p.Val245Gly
ENST00000588328.5:c.417T>G
NM_000285.3:c.926T>G NP_000276.2:p.Val309Gly
NM_001166056.1:c.803T>G NP_001159528.1:p.Val268Gly
NM_001166057.1:c.734T>G NP_001159529.1:p.Val245Gly
NM_000285.4:c.926T>G MANE Select NP_000276.2:p.Val309Gly
NM_001166056.2:c.803T>G NP_001159528.1:p.Val268Gly
NM_001166057.2:c.734T>G NP_001159529.1:p.Val245Gly