Canonical Allele Identifier: CA405224196

Gene: PEPD

Linked Data

• gnomAD v4: 19-33401765-G-T
• MyVariant Identifiers: chr19:g.33892671G>T (hg19) ; chr19:g.33401765G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401765G>T , CM000681.2:g.33401765G>T	GRCh38
NC_000019.9:g.33892671G>T , CM000681.1:g.33892671G>T	GRCh37
NC_000019.8:g.38584511G>T	NCBI36
NG_013358.1:g.125129C>A
NG_013358.2:g.125129C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.923C>A	ENSP00000468516.4:p.Ala308Glu
ENST00000651901.2:c.923C>A	ENSP00000498922.2:p.Ala308Glu
ENST00000698359.1:c.878C>A	ENSP00000513682.1:p.Ala293Glu
ENST00000698360.1:c.974C>A	ENSP00000513683.1:p.Ala325Glu
ENST00000698361.1:c.923C>A	ENSP00000513684.1:p.Ala308Glu
ENST00000698362.1:c.923C>A	ENSP00000513685.1:p.Ala308Glu
ENST00000698363.1:n.986C>A
ENST00000698364.1:n.986C>A
ENST00000698365.1:n.986C>A
ENST00000698426.1:c.602C>A	ENSP00000513713.1:p.Ala201Glu
ENST00000698427.1:c.965C>A	ENSP00000513714.1:p.Ala322Glu
ENST00000698428.1:c.602C>A	ENSP00000513715.1:p.Ala201Glu
ENST00000698429.1:n.806C>A
ENST00000698430.1:c.1173C>A
ENST00000698431.1:c.660C>A	ENSP00000513717.1:n.660C>A
ENST00000698432.1:c.732C>A
ENST00000698433.1:n.385C>A
ENST00000698434.1:n.410C>A
ENST00000244137.12:c.923C>A MANE Select	ENSP00000244137.5:p.Ala308Glu
ENST00000588328.6:c.912C>A
ENST00000590731.6:n.598C>A
ENST00000651901.1:c.919C>A
ENST00000244137.11:c.923C>A	ENSP00000244137.5:p.Ala308Glu
ENST00000397032.8:c.800C>A	ENSP00000380226.3:p.Ala267Glu
ENST00000436370.7:c.731C>A	ENSP00000391890.2:p.Ala244Glu
ENST00000588328.5:c.414C>A
NM_000285.3:c.923C>A	NP_000276.2:p.Ala308Glu
NM_001166056.1:c.800C>A	NP_001159528.1:p.Ala267Glu
NM_001166057.1:c.731C>A	NP_001159529.1:p.Ala244Glu
NM_000285.4:c.923C>A MANE Select	NP_000276.2:p.Ala308Glu
NM_001166056.2:c.800C>A	NP_001159528.1:p.Ala267Glu
NM_001166057.2:c.731C>A	NP_001159529.1:p.Ala244Glu