Canonical Allele Identifier: CA405224808

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892770A>C (hg19) ; chr19:g.33401864A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401864A>C , CM000681.2:g.33401864A>C	GRCh38
NC_000019.9:g.33892770A>C , CM000681.1:g.33892770A>C	GRCh37
NC_000019.8:g.38584610A>C	NCBI36
NG_013358.1:g.125030T>G
NG_013358.2:g.125030T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.824T>G	ENSP00000468516.4:p.Phe275Cys
ENST00000651901.2:c.824T>G	ENSP00000498922.2:p.Phe275Cys
ENST00000698359.1:c.779T>G	ENSP00000513682.1:p.Phe260Cys
ENST00000698360.1:c.875T>G	ENSP00000513683.1:p.Phe292Cys
ENST00000698361.1:c.824T>G	ENSP00000513684.1:p.Phe275Cys
ENST00000698362.1:c.824T>G	ENSP00000513685.1:p.Phe275Cys
ENST00000698363.1:n.887T>G
ENST00000698364.1:n.887T>G
ENST00000698365.1:n.887T>G
ENST00000698426.1:c.503T>G	ENSP00000513713.1:p.Phe168Cys
ENST00000698427.1:c.866T>G	ENSP00000513714.1:p.Phe289Cys
ENST00000698428.1:c.503T>G	ENSP00000513715.1:p.Phe168Cys
ENST00000698429.1:n.707T>G
ENST00000698430.1:c.1074T>G
ENST00000698431.1:c.561T>G	ENSP00000513717.1:n.561T>G
ENST00000698432.1:c.633T>G
ENST00000698433.1:n.286T>G
ENST00000698434.1:n.311T>G
ENST00000698435.1:c.512T>G	ENSP00000513719.1:p.Phe171Cys
ENST00000244137.12:c.824T>G MANE Select	ENSP00000244137.5:p.Phe275Cys
ENST00000588328.6:c.813T>G
ENST00000590731.6:n.499T>G
ENST00000651901.1:c.820T>G
ENST00000244137.11:c.824T>G	ENSP00000244137.5:p.Phe275Cys
ENST00000397032.8:c.701T>G	ENSP00000380226.3:p.Phe234Cys
ENST00000436370.7:c.632T>G	ENSP00000391890.2:p.Phe211Cys
ENST00000588328.5:c.315T>G
ENST00000588719.5:n.459T>G
ENST00000590731.5:n.499T>G
ENST00000593163.5:n.989T>G
ENST00000609145.5:c.257T>G	ENSP00000476514.1:p.Phe86Cys
NM_000285.3:c.824T>G	NP_000276.2:p.Phe275Cys
NM_001166056.1:c.701T>G	NP_001159528.1:p.Phe234Cys
NM_001166057.1:c.632T>G	NP_001159529.1:p.Phe211Cys
NM_000285.4:c.824T>G MANE Select	NP_000276.2:p.Phe275Cys
NM_001166056.2:c.701T>G	NP_001159528.1:p.Phe234Cys
NM_001166057.2:c.632T>G	NP_001159529.1:p.Phe211Cys