Canonical Allele Identifier: CA347422

Gene: PEPD

Linked Data

• ClinVar Variation Id: 209998
• ClinVar RCV Id: RCV000194259 ; RCV003556241
• dbSNP Id: rs797045185
• gnomAD v4: 19-33391344-A-C
• MyVariant Identifiers: chr19:g.33882250A>C (hg19) ; chr19:g.33391344A>C (hg38)
• PubMed: PMID:19308961 ; PMID:26110198

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33391344A>C , CM000681.2:g.33391344A>C	GRCh38
NC_000019.9:g.33882250A>C , CM000681.1:g.33882250A>C	GRCh37
NC_000019.8:g.38574090A>C	NCBI36
NG_013358.1:g.135550T>G
NG_013358.2:g.135550T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1169T>G	ENSP00000468516.4:p.Leu390Arg
ENST00000651901.2:c.1103T>G	ENSP00000498922.2:p.Leu368Arg
ENST00000698359.1:c.1058T>G	ENSP00000513682.1:p.Leu353Arg
ENST00000698360.1:c.1154T>G	ENSP00000513683.1:p.Leu385Arg
ENST00000698361.1:c.1103T>G	ENSP00000513684.1:p.Leu368Arg
ENST00000698362.1:c.968-3263T>G	ENSP00000513685.1:n.968-3263T>G
ENST00000698426.1:c.782T>G	ENSP00000513713.1:p.Leu261Arg
ENST00000698427.1:c.1145T>G	ENSP00000513714.1:p.Leu382Arg
ENST00000698428.1:c.782T>G	ENSP00000513715.1:p.Leu261Arg
ENST00000698429.1:n.986T>G
ENST00000698430.1:c.1353T>G
ENST00000698431.1:c.840T>G	ENSP00000513717.1:n.840T>G
ENST00000698432.1:c.912T>G
ENST00000698433.1:n.565T>G
ENST00000244137.12:c.1103T>G MANE Select	ENSP00000244137.5:p.Leu368Arg
ENST00000588328.6:c.1158T>G
ENST00000590731.6:n.778T>G
ENST00000651901.1:c.1099T>G
ENST00000244137.11:c.1103T>G	ENSP00000244137.5:p.Leu368Arg
ENST00000397032.8:c.980T>G	ENSP00000380226.3:p.Leu327Arg
ENST00000436370.7:c.911T>G	ENSP00000391890.2:p.Leu304Arg
ENST00000591968.1:n.175T>G
NM_000285.3:c.1103T>G	NP_000276.2:p.Leu368Arg
NM_001166056.1:c.980T>G	NP_001159528.1:p.Leu327Arg
NM_001166057.1:c.911T>G	NP_001159529.1:p.Leu304Arg
NM_000285.4:c.1103T>G MANE Select	NP_000276.2:p.Leu368Arg
NM_001166056.2:c.980T>G	NP_001159528.1:p.Leu327Arg
NM_001166057.2:c.911T>G	NP_001159529.1:p.Leu304Arg