Canonical Allele Identifier: CA2584321330

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387203-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387203G>C , CM000681.2:g.33387203G>C	GRCh38
NC_000019.9:g.33878109G>C , CM000681.1:g.33878109G>C	GRCh37
NC_000019.8:g.38569949G>C	NCBI36
NG_013358.1:g.139691C>G
NG_013358.2:g.139691C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*141C>G	ENSP00000468516.4:n.*141C>G
ENST00000651901.2:c.*141C>G	ENSP00000498922.2:n.*141C>G
ENST00000698359.1:c.*141C>G	ENSP00000513682.1:n.*141C>G
ENST00000698360.1:c.*141C>G	ENSP00000513683.1:n.*141C>G
ENST00000698361.1:c.*251C>G	ENSP00000513684.1:n.*251C>G
ENST00000698362.1:c.*760C>G	ENSP00000513685.1:n.*760C>G
ENST00000698426.1:c.*141C>G	ENSP00000513713.1:n.*141C>G
ENST00000698427.1:c.*141C>G	ENSP00000513714.1:n.*141C>G
ENST00000698428.1:c.*141C>G	ENSP00000513715.1:n.*141C>G
ENST00000698429.1:n.1506C>G
ENST00000698430.1:c.1873C>G
ENST00000698431.1:c.1360C>G	ENSP00000513717.1:n.1360C>G
ENST00000698432.1:c.1432C>G
ENST00000244137.12:c.*141C>G MANE Select	ENSP00000244137.5:n.*141C>G
ENST00000588328.6:c.1678C>G
ENST00000651901.1:c.1709C>G
ENST00000244137.11:c.*141C>G	ENSP00000244137.5:n.*141C>G
ENST00000397032.8:c.*141C>G	ENSP00000380226.3:n.*141C>G
ENST00000436370.7:c.*141C>G	ENSP00000391890.2:n.*141C>G
ENST00000589598.5:n.348C>G
ENST00000591968.1:n.695C>G
ENST00000593085.1:n.1510C>G
NM_000285.3:c.*141C>G	NP_000276.2:n.*141C>G
NM_001166056.1:c.*141C>G	NP_001159528.1:n.*141C>G
NM_001166057.1:c.*141C>G	NP_001159529.1:n.*141C>G
NM_000285.4:c.*141C>G MANE Select	NP_000276.2:n.*141C>G
NM_001166056.2:c.*141C>G	NP_001159528.1:n.*141C>G
NM_001166057.2:c.*141C>G	NP_001159529.1:n.*141C>G