Canonical Allele Identifier: CA405224783

Gene: PEPD

Linked Data

• ClinVar Variation Id: 2844743
• ClinVar RCV Id: RCV003719143
• dbSNP Id: rs374795227
• gnomAD v3: 19-33401859-T-C
• gnomAD v4: 19-33401859-T-C
• MyVariant Identifiers: chr19:g.33892765T>C (hg19) ; chr19:g.33401859T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401859T>C , CM000681.2:g.33401859T>C	GRCh38
NC_000019.9:g.33892765T>C , CM000681.1:g.33892765T>C	GRCh37
NC_000019.8:g.38584605T>C	NCBI36
NG_013358.1:g.125035A>G
NG_013358.2:g.125035A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.829A>G	ENSP00000468516.4:p.Met277Val
ENST00000651901.2:c.829A>G	ENSP00000498922.2:p.Met277Val
ENST00000698359.1:c.784A>G	ENSP00000513682.1:p.Met262Val
ENST00000698360.1:c.880A>G	ENSP00000513683.1:p.Met294Val
ENST00000698361.1:c.829A>G	ENSP00000513684.1:p.Met277Val
ENST00000698362.1:c.829A>G	ENSP00000513685.1:p.Met277Val
ENST00000698363.1:n.892A>G
ENST00000698364.1:n.892A>G
ENST00000698365.1:n.892A>G
ENST00000698426.1:c.508A>G	ENSP00000513713.1:p.Met170Val
ENST00000698427.1:c.871A>G	ENSP00000513714.1:p.Met291Val
ENST00000698428.1:c.508A>G	ENSP00000513715.1:p.Met170Val
ENST00000698429.1:n.712A>G
ENST00000698430.1:c.1079A>G
ENST00000698431.1:c.566A>G	ENSP00000513717.1:n.566A>G
ENST00000698432.1:c.638A>G
ENST00000698433.1:n.291A>G
ENST00000698434.1:n.316A>G
ENST00000698435.1:c.517A>G	ENSP00000513719.1:p.Met173Val
ENST00000244137.12:c.829A>G MANE Select	ENSP00000244137.5:p.Met277Val
ENST00000588328.6:c.818A>G
ENST00000590731.6:n.504A>G
ENST00000651901.1:c.825A>G
ENST00000244137.11:c.829A>G	ENSP00000244137.5:p.Met277Val
ENST00000397032.8:c.706A>G	ENSP00000380226.3:p.Met236Val
ENST00000436370.7:c.637A>G	ENSP00000391890.2:p.Met213Val
ENST00000588328.5:c.320A>G
ENST00000588719.5:n.464A>G
ENST00000590731.5:n.504A>G
ENST00000593163.5:n.994A>G
ENST00000609145.5:c.262A>G	ENSP00000476514.1:p.Met88Val
NM_000285.3:c.829A>G	NP_000276.2:p.Met277Val
NM_001166056.1:c.706A>G	NP_001159528.1:p.Met236Val
NM_001166057.1:c.637A>G	NP_001159529.1:p.Met213Val
NM_000285.4:c.829A>G MANE Select	NP_000276.2:p.Met277Val
NM_001166056.2:c.706A>G	NP_001159528.1:p.Met236Val
NM_001166057.2:c.637A>G	NP_001159529.1:p.Met213Val