Canonical Allele Identifier: CA2584321398

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387273-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387273C>A , CM000681.2:g.33387273C>A	GRCh38
NC_000019.9:g.33878179C>A , CM000681.1:g.33878179C>A	GRCh37
NC_000019.8:g.38570019C>A	NCBI36
NG_013358.1:g.139621G>T
NG_013358.2:g.139621G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*71G>T	ENSP00000468516.4:n.*71G>T
ENST00000651901.2:c.*71G>T	ENSP00000498922.2:n.*71G>T
ENST00000698359.1:c.*71G>T	ENSP00000513682.1:n.*71G>T
ENST00000698360.1:c.*71G>T	ENSP00000513683.1:n.*71G>T
ENST00000698361.1:c.*181G>T	ENSP00000513684.1:n.*181G>T
ENST00000698362.1:c.*690G>T	ENSP00000513685.1:n.*690G>T
ENST00000698426.1:c.*71G>T	ENSP00000513713.1:n.*71G>T
ENST00000698427.1:c.*71G>T	ENSP00000513714.1:n.*71G>T
ENST00000698428.1:c.*71G>T	ENSP00000513715.1:n.*71G>T
ENST00000698429.1:n.1436G>T
ENST00000698430.1:c.1803G>T
ENST00000698431.1:c.1290G>T	ENSP00000513717.1:n.1290G>T
ENST00000698432.1:c.1362G>T
ENST00000244137.12:c.*71G>T MANE Select	ENSP00000244137.5:n.*71G>T
ENST00000588328.6:c.1608G>T
ENST00000651901.1:c.1639G>T
ENST00000244137.11:c.*71G>T	ENSP00000244137.5:n.*71G>T
ENST00000397032.8:c.*71G>T	ENSP00000380226.3:n.*71G>T
ENST00000436370.7:c.*71G>T	ENSP00000391890.2:n.*71G>T
ENST00000589598.5:n.278G>T
ENST00000591968.1:n.625G>T
ENST00000593085.1:n.1440G>T
NM_000285.3:c.*71G>T	NP_000276.2:n.*71G>T
NM_001166056.1:c.*71G>T	NP_001159528.1:n.*71G>T
NM_001166057.1:c.*71G>T	NP_001159529.1:n.*71G>T
NM_000285.4:c.*71G>T MANE Select	NP_000276.2:n.*71G>T
NM_001166056.2:c.*71G>T	NP_001159528.1:n.*71G>T
NM_001166057.2:c.*71G>T	NP_001159529.1:n.*71G>T