Canonical Allele Identifier: CA2814185756

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387305A>C , CM000681.2:g.33387305A>C	GRCh38
NC_000019.9:g.33878211A>C , CM000681.1:g.33878211A>C	GRCh37
NC_000019.8:g.38570051A>C	NCBI36
NG_013358.1:g.139589T>G
NG_013358.2:g.139589T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*39T>G	ENSP00000468516.4:n.*39T>G
ENST00000651901.2:c.*39T>G	ENSP00000498922.2:n.*39T>G
ENST00000698359.1:c.*39T>G	ENSP00000513682.1:n.*39T>G
ENST00000698360.1:c.*39T>G	ENSP00000513683.1:n.*39T>G
ENST00000698361.1:c.*149T>G	ENSP00000513684.1:n.*149T>G
ENST00000698362.1:c.*658T>G	ENSP00000513685.1:n.*658T>G
ENST00000698426.1:c.*39T>G	ENSP00000513713.1:n.*39T>G
ENST00000698427.1:c.*39T>G	ENSP00000513714.1:n.*39T>G
ENST00000698428.1:c.*39T>G	ENSP00000513715.1:n.*39T>G
ENST00000698429.1:n.1404T>G
ENST00000698430.1:c.1771T>G
ENST00000698431.1:c.1258T>G	ENSP00000513717.1:n.1258T>G
ENST00000698432.1:c.1330T>G
ENST00000244137.12:c.*39T>G MANE Select	ENSP00000244137.5:n.*39T>G
ENST00000588328.6:c.1576T>G
ENST00000651901.1:c.1607T>G
ENST00000244137.11:c.*39T>G	ENSP00000244137.5:n.*39T>G
ENST00000397032.8:c.*39T>G	ENSP00000380226.3:n.*39T>G
ENST00000436370.7:c.*39T>G	ENSP00000391890.2:n.*39T>G
ENST00000589598.5:n.246T>G
ENST00000591968.1:n.593T>G
ENST00000593085.1:n.1408T>G
NM_000285.3:c.*39T>G	NP_000276.2:n.*39T>G
NM_001166056.1:c.*39T>G	NP_001159528.1:n.*39T>G
NM_001166057.1:c.*39T>G	NP_001159529.1:n.*39T>G
NM_000285.4:c.*39T>G MANE Select	NP_000276.2:n.*39T>G
NM_001166056.2:c.*39T>G	NP_001159528.1:n.*39T>G
NM_001166057.2:c.*39T>G	NP_001159529.1:n.*39T>G