Canonical Allele Identifier: CA405219700

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1918310
• ClinVar RCV Id: RCV002617237
• MyVariant Identifiers: chr19:g.33878352G>T (hg19) ; chr19:g.33387446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387446G>T , CM000681.2:g.33387446G>T	GRCh38
NC_000019.9:g.33878352G>T , CM000681.1:g.33878352G>T	GRCh37
NC_000019.8:g.38570192G>T	NCBI36
NG_013358.1:g.139448C>A
NG_013358.2:g.139448C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1446C>A	ENSP00000468516.4:p.Ser482Arg
ENST00000651901.2:c.1470C>A	ENSP00000498922.2:p.Ser490Arg
ENST00000698359.1:c.1335C>A	ENSP00000513682.1:p.Ser445Arg
ENST00000698360.1:c.1431C>A	ENSP00000513683.1:p.Ser477Arg
ENST00000698361.1:c.*8C>A	ENSP00000513684.1:n.*8C>A
ENST00000698362.1:c.*517C>A	ENSP00000513685.1:n.*517C>A
ENST00000698426.1:c.1059C>A	ENSP00000513713.1:p.Ser353Arg
ENST00000698427.1:c.1422C>A	ENSP00000513714.1:p.Ser474Arg
ENST00000698428.1:c.1059C>A	ENSP00000513715.1:p.Ser353Arg
ENST00000698429.1:n.1263C>A
ENST00000698430.1:c.1630C>A
ENST00000698431.1:c.1117C>A	ENSP00000513717.1:n.1117C>A
ENST00000698432.1:c.1189C>A
ENST00000698433.1:n.842C>A
ENST00000244137.12:c.1380C>A MANE Select	ENSP00000244137.5:p.Ser460Arg
ENST00000588328.6:c.1435C>A
ENST00000651901.1:c.1466C>A
ENST00000244137.11:c.1380C>A	ENSP00000244137.5:p.Ser460Arg
ENST00000397032.8:c.1257C>A	ENSP00000380226.3:p.Ser419Arg
ENST00000436370.7:c.1188C>A	ENSP00000391890.2:p.Ser396Arg
ENST00000589598.5:n.105C>A
ENST00000591968.1:n.452C>A
ENST00000593085.1:n.1267C>A
NM_000285.3:c.1380C>A	NP_000276.2:p.Ser460Arg
NM_001166056.1:c.1257C>A	NP_001159528.1:p.Ser419Arg
NM_001166057.1:c.1188C>A	NP_001159529.1:p.Ser396Arg
NM_000285.4:c.1380C>A MANE Select	NP_000276.2:p.Ser460Arg
NM_001166056.2:c.1257C>A	NP_001159528.1:p.Ser419Arg
NM_001166057.2:c.1188C>A	NP_001159529.1:p.Ser396Arg