Canonical Allele Identifier: CA405224812

Gene: PEPD

Linked Data

• dbSNP Id: rs1968503539
• gnomAD v4: 19-33401865-A-G
• MyVariant Identifiers: chr19:g.33892771A>G (hg19) ; chr19:g.33401865A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401865A>G , CM000681.2:g.33401865A>G	GRCh38
NC_000019.9:g.33892771A>G , CM000681.1:g.33892771A>G	GRCh37
NC_000019.8:g.38584611A>G	NCBI36
NG_013358.1:g.125029T>C
NG_013358.2:g.125029T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.823T>C	ENSP00000468516.4:p.Phe275Leu
ENST00000651901.2:c.823T>C	ENSP00000498922.2:p.Phe275Leu
ENST00000698359.1:c.778T>C	ENSP00000513682.1:p.Phe260Leu
ENST00000698360.1:c.874T>C	ENSP00000513683.1:p.Phe292Leu
ENST00000698361.1:c.823T>C	ENSP00000513684.1:p.Phe275Leu
ENST00000698362.1:c.823T>C	ENSP00000513685.1:p.Phe275Leu
ENST00000698363.1:n.886T>C
ENST00000698364.1:n.886T>C
ENST00000698365.1:n.886T>C
ENST00000698426.1:c.502T>C	ENSP00000513713.1:p.Phe168Leu
ENST00000698427.1:c.865T>C	ENSP00000513714.1:p.Phe289Leu
ENST00000698428.1:c.502T>C	ENSP00000513715.1:p.Phe168Leu
ENST00000698429.1:n.706T>C
ENST00000698430.1:c.1073T>C
ENST00000698431.1:c.560T>C	ENSP00000513717.1:n.560T>C
ENST00000698432.1:c.632T>C
ENST00000698433.1:n.285T>C
ENST00000698434.1:n.310T>C
ENST00000698435.1:c.511T>C	ENSP00000513719.1:p.Phe171Leu
ENST00000244137.12:c.823T>C MANE Select	ENSP00000244137.5:p.Phe275Leu
ENST00000588328.6:c.812T>C
ENST00000590731.6:n.498T>C
ENST00000651901.1:c.819T>C
ENST00000244137.11:c.823T>C	ENSP00000244137.5:p.Phe275Leu
ENST00000397032.8:c.700T>C	ENSP00000380226.3:p.Phe234Leu
ENST00000436370.7:c.631T>C	ENSP00000391890.2:p.Phe211Leu
ENST00000588328.5:c.314T>C
ENST00000588719.5:n.458T>C
ENST00000590731.5:n.498T>C
ENST00000593163.5:n.988T>C
ENST00000609145.5:c.256T>C	ENSP00000476514.1:p.Phe86Leu
NM_000285.3:c.823T>C	NP_000276.2:p.Phe275Leu
NM_001166056.1:c.700T>C	NP_001159528.1:p.Phe234Leu
NM_001166057.1:c.631T>C	NP_001159529.1:p.Phe211Leu
NM_000285.4:c.823T>C MANE Select	NP_000276.2:p.Phe275Leu
NM_001166056.2:c.700T>C	NP_001159528.1:p.Phe234Leu
NM_001166057.2:c.631T>C	NP_001159529.1:p.Phe211Leu