Canonical Allele Identifier: CA405219697

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387445-C-A
• MyVariant Identifiers: chr19:g.33878351C>A (hg19) ; chr19:g.33387445C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387445C>A , CM000681.2:g.33387445C>A	GRCh38
NC_000019.9:g.33878351C>A , CM000681.1:g.33878351C>A	GRCh37
NC_000019.8:g.38570191C>A	NCBI36
NG_013358.1:g.139449G>T
NG_013358.2:g.139449G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1447G>T	ENSP00000468516.4:p.Gly483Cys
ENST00000651901.2:c.1471G>T	ENSP00000498922.2:p.Gly491Cys
ENST00000698359.1:c.1336G>T	ENSP00000513682.1:p.Gly446Cys
ENST00000698360.1:c.1432G>T	ENSP00000513683.1:p.Gly478Cys
ENST00000698361.1:c.*9G>T	ENSP00000513684.1:n.*9G>T
ENST00000698362.1:c.*518G>T	ENSP00000513685.1:n.*518G>T
ENST00000698426.1:c.1060G>T	ENSP00000513713.1:p.Gly354Cys
ENST00000698427.1:c.1423G>T	ENSP00000513714.1:p.Gly475Cys
ENST00000698428.1:c.1060G>T	ENSP00000513715.1:p.Gly354Cys
ENST00000698429.1:n.1264G>T
ENST00000698430.1:c.1631G>T
ENST00000698431.1:c.1118G>T	ENSP00000513717.1:n.1118G>T
ENST00000698432.1:c.1190G>T
ENST00000698433.1:n.843G>T
ENST00000244137.12:c.1381G>T MANE Select	ENSP00000244137.5:p.Gly461Cys
ENST00000588328.6:c.1436G>T
ENST00000651901.1:c.1467G>T
ENST00000244137.11:c.1381G>T	ENSP00000244137.5:p.Gly461Cys
ENST00000397032.8:c.1258G>T	ENSP00000380226.3:p.Gly420Cys
ENST00000436370.7:c.1189G>T	ENSP00000391890.2:p.Gly397Cys
ENST00000589598.5:n.106G>T
ENST00000591968.1:n.453G>T
ENST00000593085.1:n.1268G>T
NM_000285.3:c.1381G>T	NP_000276.2:p.Gly461Cys
NM_001166056.1:c.1258G>T	NP_001159528.1:p.Gly420Cys
NM_001166057.1:c.1189G>T	NP_001159529.1:p.Gly397Cys
NM_000285.4:c.1381G>T MANE Select	NP_000276.2:p.Gly461Cys
NM_001166056.2:c.1258G>T	NP_001159528.1:p.Gly420Cys
NM_001166057.2:c.1189G>T	NP_001159529.1:p.Gly397Cys