Canonical Allele Identifier: CA405219564

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387403-T-A
• MyVariant Identifiers: chr19:g.33878309T>A (hg19) ; chr19:g.33387403T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387403T>A , CM000681.2:g.33387403T>A	GRCh38
NC_000019.9:g.33878309T>A , CM000681.1:g.33878309T>A	GRCh37
NC_000019.8:g.38570149T>A	NCBI36
NG_013358.1:g.139491A>T
NG_013358.2:g.139491A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1489A>T	ENSP00000468516.4:p.Ile497Phe
ENST00000651901.2:c.1513A>T	ENSP00000498922.2:p.Ile505Phe
ENST00000698359.1:c.1378A>T	ENSP00000513682.1:p.Ile460Phe
ENST00000698360.1:c.1474A>T	ENSP00000513683.1:p.Ile492Phe
ENST00000698361.1:c.*51A>T	ENSP00000513684.1:n.*51A>T
ENST00000698362.1:c.*560A>T	ENSP00000513685.1:n.*560A>T
ENST00000698426.1:c.1102A>T	ENSP00000513713.1:p.Ile368Phe
ENST00000698427.1:c.1465A>T	ENSP00000513714.1:p.Ile489Phe
ENST00000698428.1:c.1102A>T	ENSP00000513715.1:p.Ile368Phe
ENST00000698429.1:n.1306A>T
ENST00000698430.1:c.1673A>T
ENST00000698431.1:c.1160A>T	ENSP00000513717.1:n.1160A>T
ENST00000698432.1:c.1232A>T
ENST00000698433.1:n.885A>T
ENST00000244137.12:c.1423A>T MANE Select	ENSP00000244137.5:p.Ile475Phe
ENST00000588328.6:c.1478A>T
ENST00000651901.1:c.1509A>T
ENST00000244137.11:c.1423A>T	ENSP00000244137.5:p.Ile475Phe
ENST00000397032.8:c.1300A>T	ENSP00000380226.3:p.Ile434Phe
ENST00000436370.7:c.1231A>T	ENSP00000391890.2:p.Ile411Phe
ENST00000589598.5:n.148A>T
ENST00000591968.1:n.495A>T
ENST00000593085.1:n.1310A>T
NM_000285.3:c.1423A>T	NP_000276.2:p.Ile475Phe
NM_001166056.1:c.1300A>T	NP_001159528.1:p.Ile434Phe
NM_001166057.1:c.1231A>T	NP_001159529.1:p.Ile411Phe
NM_000285.4:c.1423A>T MANE Select	NP_000276.2:p.Ile475Phe
NM_001166056.2:c.1300A>T	NP_001159528.1:p.Ile434Phe
NM_001166057.2:c.1231A>T	NP_001159529.1:p.Ile411Phe