Canonical Allele Identifier: CA405219583

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878312C>G (hg19) ; chr19:g.33387406C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387406C>G , CM000681.2:g.33387406C>G	GRCh38
NC_000019.9:g.33878312C>G , CM000681.1:g.33878312C>G	GRCh37
NC_000019.8:g.38570152C>G	NCBI36
NG_013358.1:g.139488G>C
NG_013358.2:g.139488G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1486G>C	ENSP00000468516.4:p.Glu496Gln
ENST00000651901.2:c.1510G>C	ENSP00000498922.2:p.Glu504Gln
ENST00000698359.1:c.1375G>C	ENSP00000513682.1:p.Glu459Gln
ENST00000698360.1:c.1471G>C	ENSP00000513683.1:p.Glu491Gln
ENST00000698361.1:c.*48G>C	ENSP00000513684.1:n.*48G>C
ENST00000698362.1:c.*557G>C	ENSP00000513685.1:n.*557G>C
ENST00000698426.1:c.1099G>C	ENSP00000513713.1:p.Glu367Gln
ENST00000698427.1:c.1462G>C	ENSP00000513714.1:p.Glu488Gln
ENST00000698428.1:c.1099G>C	ENSP00000513715.1:p.Glu367Gln
ENST00000698429.1:n.1303G>C
ENST00000698430.1:c.1670G>C
ENST00000698431.1:c.1157G>C	ENSP00000513717.1:n.1157G>C
ENST00000698432.1:c.1229G>C
ENST00000698433.1:n.882G>C
ENST00000244137.12:c.1420G>C MANE Select	ENSP00000244137.5:p.Glu474Gln
ENST00000588328.6:c.1475G>C
ENST00000651901.1:c.1506G>C
ENST00000244137.11:c.1420G>C	ENSP00000244137.5:p.Glu474Gln
ENST00000397032.8:c.1297G>C	ENSP00000380226.3:p.Glu433Gln
ENST00000436370.7:c.1228G>C	ENSP00000391890.2:p.Glu410Gln
ENST00000589598.5:n.145G>C
ENST00000591968.1:n.492G>C
ENST00000593085.1:n.1307G>C
NM_000285.3:c.1420G>C	NP_000276.2:p.Glu474Gln
NM_001166056.1:c.1297G>C	NP_001159528.1:p.Glu433Gln
NM_001166057.1:c.1228G>C	NP_001159529.1:p.Glu410Gln
NM_000285.4:c.1420G>C MANE Select	NP_000276.2:p.Glu474Gln
NM_001166056.2:c.1297G>C	NP_001159528.1:p.Glu433Gln
NM_001166057.2:c.1228G>C	NP_001159529.1:p.Glu410Gln