Canonical Allele Identifier: CA405219518

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878300A>C (hg19) ; chr19:g.33387394A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387394A>C , CM000681.2:g.33387394A>C	GRCh38
NC_000019.9:g.33878300A>C , CM000681.1:g.33878300A>C	GRCh37
NC_000019.8:g.38570140A>C	NCBI36
NG_013358.1:g.139500T>G
NG_013358.2:g.139500T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1498T>G	ENSP00000468516.4:p.Cys500Gly
ENST00000651901.2:c.1522T>G	ENSP00000498922.2:p.Cys508Gly
ENST00000698359.1:c.1387T>G	ENSP00000513682.1:p.Cys463Gly
ENST00000698360.1:c.1483T>G	ENSP00000513683.1:p.Cys495Gly
ENST00000698361.1:c.*60T>G	ENSP00000513684.1:n.*60T>G
ENST00000698362.1:c.*569T>G	ENSP00000513685.1:n.*569T>G
ENST00000698426.1:c.1111T>G	ENSP00000513713.1:p.Cys371Gly
ENST00000698427.1:c.1474T>G	ENSP00000513714.1:p.Cys492Gly
ENST00000698428.1:c.1111T>G	ENSP00000513715.1:p.Cys371Gly
ENST00000698429.1:n.1315T>G
ENST00000698430.1:c.1682T>G
ENST00000698431.1:c.1169T>G	ENSP00000513717.1:n.1169T>G
ENST00000698432.1:c.1241T>G
ENST00000698433.1:n.894T>G
ENST00000244137.12:c.1432T>G MANE Select	ENSP00000244137.5:p.Cys478Gly
ENST00000588328.6:c.1487T>G
ENST00000651901.1:c.1518T>G
ENST00000244137.11:c.1432T>G	ENSP00000244137.5:p.Cys478Gly
ENST00000397032.8:c.1309T>G	ENSP00000380226.3:p.Cys437Gly
ENST00000436370.7:c.1240T>G	ENSP00000391890.2:p.Cys414Gly
ENST00000589598.5:n.157T>G
ENST00000591968.1:n.504T>G
ENST00000593085.1:n.1319T>G
NM_000285.3:c.1432T>G	NP_000276.2:p.Cys478Gly
NM_001166056.1:c.1309T>G	NP_001159528.1:p.Cys437Gly
NM_001166057.1:c.1240T>G	NP_001159529.1:p.Cys414Gly
NM_000285.4:c.1432T>G MANE Select	NP_000276.2:p.Cys478Gly
NM_001166056.2:c.1309T>G	NP_001159528.1:p.Cys437Gly
NM_001166057.2:c.1240T>G	NP_001159529.1:p.Cys414Gly