Canonical Allele Identifier: CA10651745

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328797
• ClinVar RCV Id: RCV000339838 ; RCV001859937
• dbSNP Id: rs886054334
• gnomAD v2: 19-33878984-C-T
• gnomAD v3: 19-33388078-C-T
• gnomAD v4: 19-33388078-C-T
• MyVariant Identifiers: chr19:g.33878984C>T (hg19) ; chr19:g.33388078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33388078C>T , CM000681.2:g.33388078C>T	GRCh38
NC_000019.9:g.33878984C>T , CM000681.1:g.33878984C>T	GRCh37
NC_000019.8:g.38570824C>T	NCBI36
NG_013358.1:g.138816G>A
NG_013358.2:g.138816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1222G>A	ENSP00000468516.4:p.Val408Met
ENST00000651901.2:c.1156G>A	ENSP00000498922.2:p.Val386Met
ENST00000698359.1:c.1111G>A	ENSP00000513682.1:p.Val371Met
ENST00000698360.1:c.1207G>A	ENSP00000513683.1:p.Val403Met
ENST00000698361.1:c.1272G>A	ENSP00000513684.1:p.Ala424=
ENST00000698362.1:c.971G>A	ENSP00000513685.1:p.Arg324His
ENST00000698426.1:c.835G>A	ENSP00000513713.1:p.Val279Met
ENST00000698427.1:c.1198G>A	ENSP00000513714.1:p.Val400Met
ENST00000698428.1:c.835G>A	ENSP00000513715.1:p.Val279Met
ENST00000698429.1:n.1039G>A
ENST00000698430.1:c.1406G>A
ENST00000698431.1:c.893G>A	ENSP00000513717.1:n.893G>A
ENST00000698432.1:c.965G>A
ENST00000698433.1:n.618G>A
ENST00000244137.12:c.1156G>A MANE Select	ENSP00000244137.5:p.Val386Met
ENST00000588328.6:c.1211G>A
ENST00000590731.6:n.831G>A
ENST00000651901.1:c.1152G>A
ENST00000244137.11:c.1156G>A	ENSP00000244137.5:p.Val386Met
ENST00000397032.8:c.1033G>A	ENSP00000380226.3:p.Val345Met
ENST00000436370.7:c.964G>A	ENSP00000391890.2:p.Val322Met
ENST00000591968.1:n.228G>A
ENST00000593085.1:n.1043G>A
NM_000285.3:c.1156G>A	NP_000276.2:p.Val386Met
NM_001166056.1:c.1033G>A	NP_001159528.1:p.Val345Met
NM_001166057.1:c.964G>A	NP_001159529.1:p.Val322Met
NM_000285.4:c.1156G>A MANE Select	NP_000276.2:p.Val386Met
NM_001166056.2:c.1033G>A	NP_001159528.1:p.Val345Met
NM_001166057.2:c.964G>A	NP_001159529.1:p.Val322Met