Canonical Allele Identifier: CA405219313

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878265G>C (hg19) ; chr19:g.33387359G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387359G>C , CM000681.2:g.33387359G>C	GRCh38
NC_000019.9:g.33878265G>C , CM000681.1:g.33878265G>C	GRCh37
NC_000019.8:g.38570105G>C	NCBI36
NG_013358.1:g.139535C>G
NG_013358.2:g.139535C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1533C>G	ENSP00000468516.4:p.Phe511Leu
ENST00000651901.2:c.1557C>G	ENSP00000498922.2:p.Phe519Leu
ENST00000698359.1:c.1422C>G	ENSP00000513682.1:p.Phe474Leu
ENST00000698360.1:c.1518C>G	ENSP00000513683.1:p.Phe506Leu
ENST00000698361.1:c.*95C>G	ENSP00000513684.1:n.*95C>G
ENST00000698362.1:c.*604C>G	ENSP00000513685.1:n.*604C>G
ENST00000698426.1:c.1146C>G	ENSP00000513713.1:p.Phe382Leu
ENST00000698427.1:c.1509C>G	ENSP00000513714.1:p.Phe503Leu
ENST00000698428.1:c.1146C>G	ENSP00000513715.1:p.Phe382Leu
ENST00000698429.1:n.1350C>G
ENST00000698430.1:c.1717C>G
ENST00000698431.1:c.1204C>G	ENSP00000513717.1:n.1204C>G
ENST00000698432.1:c.1276C>G
ENST00000698433.1:n.929C>G
ENST00000244137.12:c.1467C>G MANE Select	ENSP00000244137.5:p.Phe489Leu
ENST00000588328.6:c.1522C>G
ENST00000651901.1:c.1553C>G
ENST00000244137.11:c.1467C>G	ENSP00000244137.5:p.Phe489Leu
ENST00000397032.8:c.1344C>G	ENSP00000380226.3:p.Phe448Leu
ENST00000436370.7:c.1275C>G	ENSP00000391890.2:p.Phe425Leu
ENST00000589598.5:n.192C>G
ENST00000591968.1:n.539C>G
ENST00000593085.1:n.1354C>G
NM_000285.3:c.1467C>G	NP_000276.2:p.Phe489Leu
NM_001166056.1:c.1344C>G	NP_001159528.1:p.Phe448Leu
NM_001166057.1:c.1275C>G	NP_001159529.1:p.Phe425Leu
NM_000285.4:c.1467C>G MANE Select	NP_000276.2:p.Phe489Leu
NM_001166056.2:c.1344C>G	NP_001159528.1:p.Phe448Leu
NM_001166057.2:c.1275C>G	NP_001159529.1:p.Phe425Leu