Canonical Allele Identifier: CA307568372

Gene: PEPD

Linked Data

• ClinVar Variation Id: 2683487
• ClinVar RCV Id: RCV003480307
• dbSNP Id: rs372530277
• gnomAD v3: 19-33387393-C-T
• gnomAD v4: 19-33387393-C-T
• MyVariant Identifiers: chr19:g.33878299C>T (hg19) ; chr19:g.33387393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387393C>T , CM000681.2:g.33387393C>T	GRCh38
NC_000019.9:g.33878299C>T , CM000681.1:g.33878299C>T	GRCh37
NC_000019.8:g.38570139C>T	NCBI36
NG_013358.1:g.139501G>A
NG_013358.2:g.139501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1499G>A	ENSP00000468516.4:p.Cys500Tyr
ENST00000651901.2:c.1523G>A	ENSP00000498922.2:p.Cys508Tyr
ENST00000698359.1:c.1388G>A	ENSP00000513682.1:p.Cys463Tyr
ENST00000698360.1:c.1484G>A	ENSP00000513683.1:p.Cys495Tyr
ENST00000698361.1:c.*61G>A	ENSP00000513684.1:n.*61G>A
ENST00000698362.1:c.*570G>A	ENSP00000513685.1:n.*570G>A
ENST00000698426.1:c.1112G>A	ENSP00000513713.1:p.Cys371Tyr
ENST00000698427.1:c.1475G>A	ENSP00000513714.1:p.Cys492Tyr
ENST00000698428.1:c.1112G>A	ENSP00000513715.1:p.Cys371Tyr
ENST00000698429.1:n.1316G>A
ENST00000698430.1:c.1683G>A
ENST00000698431.1:c.1170G>A	ENSP00000513717.1:n.1170G>A
ENST00000698432.1:c.1242G>A
ENST00000698433.1:n.895G>A
ENST00000244137.12:c.1433G>A MANE Select	ENSP00000244137.5:p.Cys478Tyr
ENST00000588328.6:c.1488G>A
ENST00000651901.1:c.1519G>A
ENST00000244137.11:c.1433G>A	ENSP00000244137.5:p.Cys478Tyr
ENST00000397032.8:c.1310G>A	ENSP00000380226.3:p.Cys437Tyr
ENST00000436370.7:c.1241G>A	ENSP00000391890.2:p.Cys414Tyr
ENST00000589598.5:n.158G>A
ENST00000591968.1:n.505G>A
ENST00000593085.1:n.1320G>A
NM_000285.3:c.1433G>A	NP_000276.2:p.Cys478Tyr
NM_001166056.1:c.1310G>A	NP_001159528.1:p.Cys437Tyr
NM_001166057.1:c.1241G>A	NP_001159529.1:p.Cys414Tyr
NM_000285.4:c.1433G>A MANE Select	NP_000276.2:p.Cys478Tyr
NM_001166056.2:c.1310G>A	NP_001159528.1:p.Cys437Tyr
NM_001166057.2:c.1241G>A	NP_001159529.1:p.Cys414Tyr