Canonical Allele Identifier: CA214918

Gene: PEPD

Linked Data

• ClinVar Variation Id: 216
• ClinVar RCV Id: RCV000000240
• dbSNP Id: rs267606944
• gnomAD v4: 19-33388000-C-T
• MyVariant Identifiers: chr19:g.33878906C>T (hg19) ; chr19:g.33388000C>T (hg38)
• PubMed: PMID:17142620

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33388000C>T , CM000681.2:g.33388000C>T	GRCh38
NC_000019.9:g.33878906C>T , CM000681.1:g.33878906C>T	GRCh37
NC_000019.8:g.38570746C>T	NCBI36
NG_013358.1:g.138894G>A
NG_013358.2:g.138894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1300G>A	ENSP00000468516.4:p.Glu434Lys
ENST00000651901.2:c.1234G>A	ENSP00000498922.2:p.Glu412Lys
ENST00000698359.1:c.1189G>A	ENSP00000513682.1:p.Glu397Lys
ENST00000698360.1:c.1285G>A	ENSP00000513683.1:p.Glu429Lys
ENST00000698361.1:c.1350G>A	ENSP00000513684.1:p.Trp450Ter
ENST00000698362.1:c.1049G>A	ENSP00000513685.1:p.Gly350Glu
ENST00000698426.1:c.913G>A	ENSP00000513713.1:p.Glu305Lys
ENST00000698427.1:c.1276G>A	ENSP00000513714.1:p.Glu426Lys
ENST00000698428.1:c.913G>A	ENSP00000513715.1:p.Glu305Lys
ENST00000698429.1:n.1117G>A
ENST00000698430.1:c.1484G>A
ENST00000698431.1:c.971G>A	ENSP00000513717.1:n.971G>A
ENST00000698432.1:c.1043G>A
ENST00000698433.1:n.696G>A
ENST00000244137.12:c.1234G>A MANE Select	ENSP00000244137.5:p.Glu412Lys
ENST00000588328.6:c.1289G>A
ENST00000590731.6:n.909G>A
ENST00000651901.1:c.1230G>A
ENST00000244137.11:c.1234G>A	ENSP00000244137.5:p.Glu412Lys
ENST00000397032.8:c.1111G>A	ENSP00000380226.3:p.Glu371Lys
ENST00000436370.7:c.1042G>A	ENSP00000391890.2:p.Glu348Lys
ENST00000591968.1:n.306G>A
ENST00000593085.1:n.1121G>A
NM_000285.3:c.1234G>A	NP_000276.2:p.Glu412Lys
NM_001166056.1:c.1111G>A	NP_001159528.1:p.Glu371Lys
NM_001166057.1:c.1042G>A	NP_001159529.1:p.Glu348Lys
NM_000285.4:c.1234G>A MANE Select	NP_000276.2:p.Glu412Lys
NM_001166056.2:c.1111G>A	NP_001159528.1:p.Glu371Lys
NM_001166057.2:c.1042G>A	NP_001159529.1:p.Glu348Lys