Canonical Allele Identifier: CA405229441
Community Standard Title: NM_000285.4(PEPD):c.504-1G>A
Gene: PEPD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33478091C>T , CM000681.2:g.33478091C>T GRCh38
NC_000019.9:g.33968997C>T , CM000681.1:g.33968997C>T GRCh37
NC_000019.8:g.38660837C>T NCBI36
NG_013358.1:g.48803G>A
NG_013358.2:g.48803G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000285.4:c.504-1G>A MANE Select NP_000276.2:n.504-1G>A
ENST00000244137.12:c.504-1G>A MANE Select ENSP00000244137.5:n.504-1G>A
NM_000285.3:c.504-1G>A NP_000276.2:n.504-1G>A
NM_001166056.1:c.504-1G>A NP_001159528.1:n.504-1G>A
NM_001166056.2:c.504-1G>A NP_001159528.1:n.504-1G>A
NM_001166057.1:c.312-1G>A NP_001159529.1:n.312-1G>A
NM_001166057.2:c.312-1G>A NP_001159529.1:n.312-1G>A
ENST00000244137.11:c.504-1G>A ENSP00000244137.5:n.504-1G>A
ENST00000397032.8:c.504-1G>A ENSP00000380226.3:n.504-1G>A
ENST00000436370.7:c.312-1G>A ENSP00000391890.2:n.312-1G>A
ENST00000588328.6:c.493-1G>A
ENST00000588328.7:c.504-1G>A ENSP00000468516.4:n.504-1G>A
ENST00000588719.5:n.139-1G>A
ENST00000590408.1:c.222-1G>A
ENST00000590731.5:n.179-1G>A
ENST00000590731.6:n.179-1G>A
ENST00000590755.6:c.111-1G>A ENSP00000476667.1:n.111-1G>A
ENST00000593163.5:n.669-1G>A
ENST00000609145.5:c.-64-1G>A ENSP00000476514.1:n.-64-1G>A
ENST00000651646.1:c.502-1G>A
ENST00000651646.2:c.504-1G>A ENSP00000498950.2:n.504-1G>A
ENST00000651901.1:c.500-1G>A
ENST00000651901.2:c.504-1G>A ENSP00000498922.2:n.504-1G>A
ENST00000698359.1:c.503+11905G>A ENSP00000513682.1:n.503+11905G>A
ENST00000698360.1:c.504-1G>A ENSP00000513683.1:n.504-1G>A
ENST00000698361.1:c.504-1G>A ENSP00000513684.1:n.504-1G>A
ENST00000698362.1:c.504-1G>A ENSP00000513685.1:n.504-1G>A
ENST00000698363.1:n.567-1G>A
ENST00000698364.1:n.567-1G>A
ENST00000698365.1:n.567-1G>A
ENST00000698426.1:c.183-1G>A ENSP00000513713.1:n.183-1G>A
ENST00000698427.1:c.546-1G>A ENSP00000513714.1:n.546-1G>A
ENST00000698428.1:c.183-1G>A ENSP00000513715.1:n.183-1G>A
ENST00000698430.1:c.754-1G>A
ENST00000698431.1:c.241-1G>A ENSP00000513717.1:n.241-1G>A
ENST00000698432.1:c.313-1G>A
ENST00000698435.1:c.192-1G>A ENSP00000513719.1:n.192-1G>A
ENST00000698436.1:c.*116-1G>A ENSP00000513720.1:n.*116-1G>A
ENST00000698437.1:n.487-1G>A
ENST00000698438.1:n.486-1G>A
ENST00000698439.1:c.361-1G>A ENSP00000513721.1:n.361-1G>A