Canonical Allele Identifier: CA405219324

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878266A>C (hg19) ; chr19:g.33387360A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387360A>C , CM000681.2:g.33387360A>C	GRCh38
NC_000019.9:g.33878266A>C , CM000681.1:g.33878266A>C	GRCh37
NC_000019.8:g.38570106A>C	NCBI36
NG_013358.1:g.139534T>G
NG_013358.2:g.139534T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1532T>G	ENSP00000468516.4:p.Phe511Cys
ENST00000651901.2:c.1556T>G	ENSP00000498922.2:p.Phe519Cys
ENST00000698359.1:c.1421T>G	ENSP00000513682.1:p.Phe474Cys
ENST00000698360.1:c.1517T>G	ENSP00000513683.1:p.Phe506Cys
ENST00000698361.1:c.*94T>G	ENSP00000513684.1:n.*94T>G
ENST00000698362.1:c.*603T>G	ENSP00000513685.1:n.*603T>G
ENST00000698426.1:c.1145T>G	ENSP00000513713.1:p.Phe382Cys
ENST00000698427.1:c.1508T>G	ENSP00000513714.1:p.Phe503Cys
ENST00000698428.1:c.1145T>G	ENSP00000513715.1:p.Phe382Cys
ENST00000698429.1:n.1349T>G
ENST00000698430.1:c.1716T>G
ENST00000698431.1:c.1203T>G	ENSP00000513717.1:n.1203T>G
ENST00000698432.1:c.1275T>G
ENST00000698433.1:n.928T>G
ENST00000244137.12:c.1466T>G MANE Select	ENSP00000244137.5:p.Phe489Cys
ENST00000588328.6:c.1521T>G
ENST00000651901.1:c.1552T>G
ENST00000244137.11:c.1466T>G	ENSP00000244137.5:p.Phe489Cys
ENST00000397032.8:c.1343T>G	ENSP00000380226.3:p.Phe448Cys
ENST00000436370.7:c.1274T>G	ENSP00000391890.2:p.Phe425Cys
ENST00000589598.5:n.191T>G
ENST00000591968.1:n.538T>G
ENST00000593085.1:n.1353T>G
NM_000285.3:c.1466T>G	NP_000276.2:p.Phe489Cys
NM_001166056.1:c.1343T>G	NP_001159528.1:p.Phe448Cys
NM_001166057.1:c.1274T>G	NP_001159529.1:p.Phe425Cys
NM_000285.4:c.1466T>G MANE Select	NP_000276.2:p.Phe489Cys
NM_001166056.2:c.1343T>G	NP_001159528.1:p.Phe448Cys
NM_001166057.2:c.1274T>G	NP_001159529.1:p.Phe425Cys