Canonical Allele Identifier: CA214915

Gene: PEPD

Linked Data

• ClinVar Variation Id: 213
• ClinVar RCV Id: RCV000000237 ; RCV002512598
• dbSNP Id: rs121917724
• ExAC: 19:33878798 C / T
• gnomAD v2: 19-33878798-C-T
• gnomAD v3: 19-33387892-C-T
• gnomAD v4: 19-33387892-C-T
• MyVariant Identifiers: chr19:g.33878798C>T (hg19) ; chr19:g.33387892C>T (hg38)
• PubMed: PMID:8198124 ; PMID:8900231 ; PMID:12384772 ; PMID:17142620 ; PMID:23516557

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387892C>T , CM000681.2:g.33387892C>T	GRCh38
NC_000019.9:g.33878798C>T , CM000681.1:g.33878798C>T	GRCh37
NC_000019.8:g.38570638C>T	NCBI36
NG_013358.1:g.139002G>A
NG_013358.2:g.139002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1408G>A	ENSP00000468516.4:p.Gly470Arg
ENST00000651901.2:c.1342G>A	ENSP00000498922.2:p.Gly448Arg
ENST00000698359.1:c.1297G>A	ENSP00000513682.1:p.Gly433Arg
ENST00000698360.1:c.1393G>A	ENSP00000513683.1:p.Gly465Arg
ENST00000698361.1:c.1458G>A	ENSP00000513684.1:p.Ala486=
ENST00000698362.1:c.*71G>A	ENSP00000513685.1:n.*71G>A
ENST00000698426.1:c.1021G>A	ENSP00000513713.1:p.Gly341Arg
ENST00000698427.1:c.1384G>A	ENSP00000513714.1:p.Gly462Arg
ENST00000698428.1:c.1021G>A	ENSP00000513715.1:p.Gly341Arg
ENST00000698429.1:n.1225G>A
ENST00000698430.1:c.1592G>A
ENST00000698431.1:c.1079G>A	ENSP00000513717.1:n.1079G>A
ENST00000698432.1:c.1151G>A
ENST00000698433.1:n.804G>A
ENST00000244137.12:c.1342G>A MANE Select	ENSP00000244137.5:p.Gly448Arg
ENST00000588328.6:c.1397G>A
ENST00000651901.1:c.1338G>A
ENST00000244137.11:c.1342G>A	ENSP00000244137.5:p.Gly448Arg
ENST00000397032.8:c.1219G>A	ENSP00000380226.3:p.Gly407Arg
ENST00000436370.7:c.1150G>A	ENSP00000391890.2:p.Gly384Arg
ENST00000591968.1:n.414G>A
ENST00000593085.1:n.1229G>A
NM_000285.3:c.1342G>A	NP_000276.2:p.Gly448Arg
NM_001166056.1:c.1219G>A	NP_001159528.1:p.Gly407Arg
NM_001166057.1:c.1150G>A	NP_001159529.1:p.Gly384Arg
NM_000285.4:c.1342G>A MANE Select	NP_000276.2:p.Gly448Arg
NM_001166056.2:c.1219G>A	NP_001159528.1:p.Gly407Arg
NM_001166057.2:c.1150G>A	NP_001159529.1:p.Gly384Arg