Canonical Allele Identifier: CA307568296

Gene: PEPD

Linked Data

• dbSNP Id: rs369236384
• gnomAD v4: 19-33387324-G-T
• MyVariant Identifiers: chr19:g.33878230G>T (hg19) ; chr19:g.33387324G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387324G>T , CM000681.2:g.33387324G>T	GRCh38
NC_000019.9:g.33878230G>T , CM000681.1:g.33878230G>T	GRCh37
NC_000019.8:g.38570070G>T	NCBI36
NG_013358.1:g.139570C>A
NG_013358.2:g.139570C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*20C>A	ENSP00000468516.4:n.*20C>A
ENST00000651901.2:c.*20C>A	ENSP00000498922.2:n.*20C>A
ENST00000698359.1:c.*20C>A	ENSP00000513682.1:n.*20C>A
ENST00000698360.1:c.*20C>A	ENSP00000513683.1:n.*20C>A
ENST00000698361.1:c.*130C>A	ENSP00000513684.1:n.*130C>A
ENST00000698362.1:c.*639C>A	ENSP00000513685.1:n.*639C>A
ENST00000698426.1:c.*20C>A	ENSP00000513713.1:n.*20C>A
ENST00000698427.1:c.*20C>A	ENSP00000513714.1:n.*20C>A
ENST00000698428.1:c.*20C>A	ENSP00000513715.1:n.*20C>A
ENST00000698429.1:n.1385C>A
ENST00000698430.1:c.1752C>A
ENST00000698431.1:c.1239C>A	ENSP00000513717.1:n.1239C>A
ENST00000698432.1:c.1311C>A
ENST00000244137.12:c.*20C>A MANE Select	ENSP00000244137.5:n.*20C>A
ENST00000588328.6:c.1557C>A
ENST00000651901.1:c.1588C>A
ENST00000244137.11:c.*20C>A	ENSP00000244137.5:n.*20C>A
ENST00000397032.8:c.*20C>A	ENSP00000380226.3:n.*20C>A
ENST00000436370.7:c.*20C>A	ENSP00000391890.2:n.*20C>A
ENST00000589598.5:n.227C>A
ENST00000591968.1:n.574C>A
ENST00000593085.1:n.1389C>A
NM_000285.3:c.*20C>A	NP_000276.2:n.*20C>A
NM_001166056.1:c.*20C>A	NP_001159528.1:n.*20C>A
NM_001166057.1:c.*20C>A	NP_001159529.1:n.*20C>A
NM_000285.4:c.*20C>A MANE Select	NP_000276.2:n.*20C>A
NM_001166056.2:c.*20C>A	NP_001159528.1:n.*20C>A
NM_001166057.2:c.*20C>A	NP_001159529.1:n.*20C>A