Canonical Allele Identifier: CA405219678

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878341A>T (hg19) ; chr19:g.33387435A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387435A>T , CM000681.2:g.33387435A>T	GRCh38
NC_000019.9:g.33878341A>T , CM000681.1:g.33878341A>T	GRCh37
NC_000019.8:g.38570181A>T	NCBI36
NG_013358.1:g.139459T>A
NG_013358.2:g.139459T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1457T>A	ENSP00000468516.4:p.Leu486Gln
ENST00000651901.2:c.1481T>A	ENSP00000498922.2:p.Leu494Gln
ENST00000698359.1:c.1346T>A	ENSP00000513682.1:p.Leu449Gln
ENST00000698360.1:c.1442T>A	ENSP00000513683.1:p.Leu481Gln
ENST00000698361.1:c.*19T>A	ENSP00000513684.1:n.*19T>A
ENST00000698362.1:c.*528T>A	ENSP00000513685.1:n.*528T>A
ENST00000698426.1:c.1070T>A	ENSP00000513713.1:p.Leu357Gln
ENST00000698427.1:c.1433T>A	ENSP00000513714.1:p.Leu478Gln
ENST00000698428.1:c.1070T>A	ENSP00000513715.1:p.Leu357Gln
ENST00000698429.1:n.1274T>A
ENST00000698430.1:c.1641T>A
ENST00000698431.1:c.1128T>A	ENSP00000513717.1:n.1128T>A
ENST00000698432.1:c.1200T>A
ENST00000698433.1:n.853T>A
ENST00000244137.12:c.1391T>A MANE Select	ENSP00000244137.5:p.Leu464Gln
ENST00000588328.6:c.1446T>A
ENST00000651901.1:c.1477T>A
ENST00000244137.11:c.1391T>A	ENSP00000244137.5:p.Leu464Gln
ENST00000397032.8:c.1268T>A	ENSP00000380226.3:p.Leu423Gln
ENST00000436370.7:c.1199T>A	ENSP00000391890.2:p.Leu400Gln
ENST00000589598.5:n.116T>A
ENST00000591968.1:n.463T>A
ENST00000593085.1:n.1278T>A
NM_000285.3:c.1391T>A	NP_000276.2:p.Leu464Gln
NM_001166056.1:c.1268T>A	NP_001159528.1:p.Leu423Gln
NM_001166057.1:c.1199T>A	NP_001159529.1:p.Leu400Gln
NM_000285.4:c.1391T>A MANE Select	NP_000276.2:p.Leu464Gln
NM_001166056.2:c.1268T>A	NP_001159528.1:p.Leu423Gln
NM_001166057.2:c.1199T>A	NP_001159529.1:p.Leu400Gln