Canonical Allele Identifier: CA405219578

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878311T>A (hg19) ; chr19:g.33387405T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387405T>A , CM000681.2:g.33387405T>A	GRCh38
NC_000019.9:g.33878311T>A , CM000681.1:g.33878311T>A	GRCh37
NC_000019.8:g.38570151T>A	NCBI36
NG_013358.1:g.139489A>T
NG_013358.2:g.139489A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1487A>T	ENSP00000468516.4:p.Glu496Val
ENST00000651901.2:c.1511A>T	ENSP00000498922.2:p.Glu504Val
ENST00000698359.1:c.1376A>T	ENSP00000513682.1:p.Glu459Val
ENST00000698360.1:c.1472A>T	ENSP00000513683.1:p.Glu491Val
ENST00000698361.1:c.*49A>T	ENSP00000513684.1:n.*49A>T
ENST00000698362.1:c.*558A>T	ENSP00000513685.1:n.*558A>T
ENST00000698426.1:c.1100A>T	ENSP00000513713.1:p.Glu367Val
ENST00000698427.1:c.1463A>T	ENSP00000513714.1:p.Glu488Val
ENST00000698428.1:c.1100A>T	ENSP00000513715.1:p.Glu367Val
ENST00000698429.1:n.1304A>T
ENST00000698430.1:c.1671A>T
ENST00000698431.1:c.1158A>T	ENSP00000513717.1:n.1158A>T
ENST00000698432.1:c.1230A>T
ENST00000698433.1:n.883A>T
ENST00000244137.12:c.1421A>T MANE Select	ENSP00000244137.5:p.Glu474Val
ENST00000588328.6:c.1476A>T
ENST00000651901.1:c.1507A>T
ENST00000244137.11:c.1421A>T	ENSP00000244137.5:p.Glu474Val
ENST00000397032.8:c.1298A>T	ENSP00000380226.3:p.Glu433Val
ENST00000436370.7:c.1229A>T	ENSP00000391890.2:p.Glu410Val
ENST00000589598.5:n.146A>T
ENST00000591968.1:n.493A>T
ENST00000593085.1:n.1308A>T
NM_000285.3:c.1421A>T	NP_000276.2:p.Glu474Val
NM_001166056.1:c.1298A>T	NP_001159528.1:p.Glu433Val
NM_001166057.1:c.1229A>T	NP_001159529.1:p.Glu410Val
NM_000285.4:c.1421A>T MANE Select	NP_000276.2:p.Glu474Val
NM_001166056.2:c.1298A>T	NP_001159528.1:p.Glu433Val
NM_001166057.2:c.1229A>T	NP_001159529.1:p.Glu410Val