Canonical Allele Identifier: CA2584321378

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387251-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387251C>A , CM000681.2:g.33387251C>A	GRCh38
NC_000019.9:g.33878157C>A , CM000681.1:g.33878157C>A	GRCh37
NC_000019.8:g.38569997C>A	NCBI36
NG_013358.1:g.139643G>T
NG_013358.2:g.139643G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*93G>T	ENSP00000468516.4:n.*93G>T
ENST00000651901.2:c.*93G>T	ENSP00000498922.2:n.*93G>T
ENST00000698359.1:c.*93G>T	ENSP00000513682.1:n.*93G>T
ENST00000698360.1:c.*93G>T	ENSP00000513683.1:n.*93G>T
ENST00000698361.1:c.*203G>T	ENSP00000513684.1:n.*203G>T
ENST00000698362.1:c.*712G>T	ENSP00000513685.1:n.*712G>T
ENST00000698426.1:c.*93G>T	ENSP00000513713.1:n.*93G>T
ENST00000698427.1:c.*93G>T	ENSP00000513714.1:n.*93G>T
ENST00000698428.1:c.*93G>T	ENSP00000513715.1:n.*93G>T
ENST00000698429.1:n.1458G>T
ENST00000698430.1:c.1825G>T
ENST00000698431.1:c.1312G>T	ENSP00000513717.1:n.1312G>T
ENST00000698432.1:c.1384G>T
ENST00000244137.12:c.*93G>T MANE Select	ENSP00000244137.5:n.*93G>T
ENST00000588328.6:c.1630G>T
ENST00000651901.1:c.1661G>T
ENST00000244137.11:c.*93G>T	ENSP00000244137.5:n.*93G>T
ENST00000397032.8:c.*93G>T	ENSP00000380226.3:n.*93G>T
ENST00000436370.7:c.*93G>T	ENSP00000391890.2:n.*93G>T
ENST00000589598.5:n.300G>T
ENST00000591968.1:n.647G>T
ENST00000593085.1:n.1462G>T
NM_000285.3:c.*93G>T	NP_000276.2:n.*93G>T
NM_001166056.1:c.*93G>T	NP_001159528.1:n.*93G>T
NM_001166057.1:c.*93G>T	NP_001159529.1:n.*93G>T
NM_000285.4:c.*93G>T MANE Select	NP_000276.2:n.*93G>T
NM_001166056.2:c.*93G>T	NP_001159528.1:n.*93G>T
NM_001166057.2:c.*93G>T	NP_001159529.1:n.*93G>T