Canonical Allele Identifier: CA214908

Gene: PEPD

Linked Data

• ClinVar Variation Id: 208
• ClinVar RCV Id: RCV000000232 ; RCV000520088
• dbSNP Id: rs121917721
• ExAC: 19:33892768 C / T
• gnomAD v2: 19-33892768-C-T
• gnomAD v3: 19-33401862-C-T
• gnomAD v4: 19-33401862-C-T
• MyVariant Identifiers: chr19:g.33892768C>T (hg19) ; chr19:g.33892768_33892769delinsTG (hg19) ; chr19:g.33401862C>T (hg38)
• PubMed: PMID:2365824

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401862C>T , CM000681.2:g.33401862C>T	GRCh38
NC_000019.9:g.33892768C>T , CM000681.1:g.33892768C>T	GRCh37
NC_000019.8:g.38584608C>T	NCBI36
NG_013358.1:g.125032G>A
NG_013358.2:g.125032G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.826G>A	ENSP00000468516.4:p.Asp276Asn
ENST00000651901.2:c.826G>A	ENSP00000498922.2:p.Asp276Asn
ENST00000698359.1:c.781G>A	ENSP00000513682.1:p.Asp261Asn
ENST00000698360.1:c.877G>A	ENSP00000513683.1:p.Asp293Asn
ENST00000698361.1:c.826G>A	ENSP00000513684.1:p.Asp276Asn
ENST00000698362.1:c.826G>A	ENSP00000513685.1:p.Asp276Asn
ENST00000698363.1:n.889G>A
ENST00000698364.1:n.889G>A
ENST00000698365.1:n.889G>A
ENST00000698426.1:c.505G>A	ENSP00000513713.1:p.Asp169Asn
ENST00000698427.1:c.868G>A	ENSP00000513714.1:p.Asp290Asn
ENST00000698428.1:c.505G>A	ENSP00000513715.1:p.Asp169Asn
ENST00000698429.1:n.709G>A
ENST00000698430.1:c.1076G>A
ENST00000698431.1:c.563G>A	ENSP00000513717.1:n.563G>A
ENST00000698432.1:c.635G>A
ENST00000698433.1:n.288G>A
ENST00000698434.1:n.313G>A
ENST00000698435.1:c.514G>A	ENSP00000513719.1:p.Asp172Asn
ENST00000244137.12:c.826G>A MANE Select	ENSP00000244137.5:p.Asp276Asn
ENST00000588328.6:c.815G>A
ENST00000590731.6:n.501G>A
ENST00000651901.1:c.822G>A
ENST00000244137.11:c.826G>A	ENSP00000244137.5:p.Asp276Asn
ENST00000397032.8:c.703G>A	ENSP00000380226.3:p.Asp235Asn
ENST00000436370.7:c.634G>A	ENSP00000391890.2:p.Asp212Asn
ENST00000588328.5:c.317G>A
ENST00000588719.5:n.461G>A
ENST00000590731.5:n.501G>A
ENST00000593163.5:n.991G>A
ENST00000609145.5:c.259G>A	ENSP00000476514.1:p.Asp87Asn
NM_000285.3:c.826G>A	NP_000276.2:p.Asp276Asn
NM_001166056.1:c.703G>A	NP_001159528.1:p.Asp235Asn
NM_001166057.1:c.634G>A	NP_001159529.1:p.Asp212Asn
NM_000285.4:c.826G>A MANE Select	NP_000276.2:p.Asp276Asn
NM_001166056.2:c.703G>A	NP_001159528.1:p.Asp235Asn
NM_001166057.2:c.634G>A	NP_001159529.1:p.Asp212Asn