Canonical Allele Identifier: CA405219381

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878276A>T (hg19) ; chr19:g.33387370A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387370A>T , CM000681.2:g.33387370A>T	GRCh38
NC_000019.9:g.33878276A>T , CM000681.1:g.33878276A>T	GRCh37
NC_000019.8:g.38570116A>T	NCBI36
NG_013358.1:g.139524T>A
NG_013358.2:g.139524T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1522T>A	ENSP00000468516.4:p.Phe508Ile
ENST00000651901.2:c.1546T>A	ENSP00000498922.2:p.Phe516Ile
ENST00000698359.1:c.1411T>A	ENSP00000513682.1:p.Phe471Ile
ENST00000698360.1:c.1507T>A	ENSP00000513683.1:p.Phe503Ile
ENST00000698361.1:c.*84T>A	ENSP00000513684.1:n.*84T>A
ENST00000698362.1:c.*593T>A	ENSP00000513685.1:n.*593T>A
ENST00000698426.1:c.1135T>A	ENSP00000513713.1:p.Phe379Ile
ENST00000698427.1:c.1498T>A	ENSP00000513714.1:p.Phe500Ile
ENST00000698428.1:c.1135T>A	ENSP00000513715.1:p.Phe379Ile
ENST00000698429.1:n.1339T>A
ENST00000698430.1:c.1706T>A
ENST00000698431.1:c.1193T>A	ENSP00000513717.1:n.1193T>A
ENST00000698432.1:c.1265T>A
ENST00000698433.1:n.918T>A
ENST00000244137.12:c.1456T>A MANE Select	ENSP00000244137.5:p.Phe486Ile
ENST00000588328.6:c.1511T>A
ENST00000651901.1:c.1542T>A
ENST00000244137.11:c.1456T>A	ENSP00000244137.5:p.Phe486Ile
ENST00000397032.8:c.1333T>A	ENSP00000380226.3:p.Phe445Ile
ENST00000436370.7:c.1264T>A	ENSP00000391890.2:p.Phe422Ile
ENST00000589598.5:n.181T>A
ENST00000591968.1:n.528T>A
ENST00000593085.1:n.1343T>A
NM_000285.3:c.1456T>A	NP_000276.2:p.Phe486Ile
NM_001166056.1:c.1333T>A	NP_001159528.1:p.Phe445Ile
NM_001166057.1:c.1264T>A	NP_001159529.1:p.Phe422Ile
NM_000285.4:c.1456T>A MANE Select	NP_000276.2:p.Phe486Ile
NM_001166056.2:c.1333T>A	NP_001159528.1:p.Phe445Ile
NM_001166057.2:c.1264T>A	NP_001159529.1:p.Phe422Ile