Canonical Allele Identifier: CA405219449

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878288A>G (hg19) ; chr19:g.33387382A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387382A>G , CM000681.2:g.33387382A>G	GRCh38
NC_000019.9:g.33878288A>G , CM000681.1:g.33878288A>G	GRCh37
NC_000019.8:g.38570128A>G	NCBI36
NG_013358.1:g.139512T>C
NG_013358.2:g.139512T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1510T>C	ENSP00000468516.4:p.Cys504Arg
ENST00000651901.2:c.1534T>C	ENSP00000498922.2:p.Cys512Arg
ENST00000698359.1:c.1399T>C	ENSP00000513682.1:p.Cys467Arg
ENST00000698360.1:c.1495T>C	ENSP00000513683.1:p.Cys499Arg
ENST00000698361.1:c.*72T>C	ENSP00000513684.1:n.*72T>C
ENST00000698362.1:c.*581T>C	ENSP00000513685.1:n.*581T>C
ENST00000698426.1:c.1123T>C	ENSP00000513713.1:p.Cys375Arg
ENST00000698427.1:c.1486T>C	ENSP00000513714.1:p.Cys496Arg
ENST00000698428.1:c.1123T>C	ENSP00000513715.1:p.Cys375Arg
ENST00000698429.1:n.1327T>C
ENST00000698430.1:c.1694T>C
ENST00000698431.1:c.1181T>C	ENSP00000513717.1:n.1181T>C
ENST00000698432.1:c.1253T>C
ENST00000698433.1:n.906T>C
ENST00000244137.12:c.1444T>C MANE Select	ENSP00000244137.5:p.Cys482Arg
ENST00000588328.6:c.1499T>C
ENST00000651901.1:c.1530T>C
ENST00000244137.11:c.1444T>C	ENSP00000244137.5:p.Cys482Arg
ENST00000397032.8:c.1321T>C	ENSP00000380226.3:p.Cys441Arg
ENST00000436370.7:c.1252T>C	ENSP00000391890.2:p.Cys418Arg
ENST00000589598.5:n.169T>C
ENST00000591968.1:n.516T>C
ENST00000593085.1:n.1331T>C
NM_000285.3:c.1444T>C	NP_000276.2:p.Cys482Arg
NM_001166056.1:c.1321T>C	NP_001159528.1:p.Cys441Arg
NM_001166057.1:c.1252T>C	NP_001159529.1:p.Cys418Arg
NM_000285.4:c.1444T>C MANE Select	NP_000276.2:p.Cys482Arg
NM_001166056.2:c.1321T>C	NP_001159528.1:p.Cys441Arg
NM_001166057.2:c.1252T>C	NP_001159529.1:p.Cys418Arg