Canonical Allele Identifier: CA405219680

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878342G>T (hg19) ; chr19:g.33387436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387436G>T , CM000681.2:g.33387436G>T	GRCh38
NC_000019.9:g.33878342G>T , CM000681.1:g.33878342G>T	GRCh37
NC_000019.8:g.38570182G>T	NCBI36
NG_013358.1:g.139458C>A
NG_013358.2:g.139458C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1456C>A	ENSP00000468516.4:p.Leu486Met
ENST00000651901.2:c.1480C>A	ENSP00000498922.2:p.Leu494Met
ENST00000698359.1:c.1345C>A	ENSP00000513682.1:p.Leu449Met
ENST00000698360.1:c.1441C>A	ENSP00000513683.1:p.Leu481Met
ENST00000698361.1:c.*18C>A	ENSP00000513684.1:n.*18C>A
ENST00000698362.1:c.*527C>A	ENSP00000513685.1:n.*527C>A
ENST00000698426.1:c.1069C>A	ENSP00000513713.1:p.Leu357Met
ENST00000698427.1:c.1432C>A	ENSP00000513714.1:p.Leu478Met
ENST00000698428.1:c.1069C>A	ENSP00000513715.1:p.Leu357Met
ENST00000698429.1:n.1273C>A
ENST00000698430.1:c.1640C>A
ENST00000698431.1:c.1127C>A	ENSP00000513717.1:n.1127C>A
ENST00000698432.1:c.1199C>A
ENST00000698433.1:n.852C>A
ENST00000244137.12:c.1390C>A MANE Select	ENSP00000244137.5:p.Leu464Met
ENST00000588328.6:c.1445C>A
ENST00000651901.1:c.1476C>A
ENST00000244137.11:c.1390C>A	ENSP00000244137.5:p.Leu464Met
ENST00000397032.8:c.1267C>A	ENSP00000380226.3:p.Leu423Met
ENST00000436370.7:c.1198C>A	ENSP00000391890.2:p.Leu400Met
ENST00000589598.5:n.115C>A
ENST00000591968.1:n.462C>A
ENST00000593085.1:n.1277C>A
NM_000285.3:c.1390C>A	NP_000276.2:p.Leu464Met
NM_001166056.1:c.1267C>A	NP_001159528.1:p.Leu423Met
NM_001166057.1:c.1198C>A	NP_001159529.1:p.Leu400Met
NM_000285.4:c.1390C>A MANE Select	NP_000276.2:p.Leu464Met
NM_001166056.2:c.1267C>A	NP_001159528.1:p.Leu423Met
NM_001166057.2:c.1198C>A	NP_001159529.1:p.Leu400Met