Canonical Allele Identifier: CA405219646

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878326G>C (hg19) ; chr19:g.33387420G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387420G>C , CM000681.2:g.33387420G>C	GRCh38
NC_000019.9:g.33878326G>C , CM000681.1:g.33878326G>C	GRCh37
NC_000019.8:g.38570166G>C	NCBI36
NG_013358.1:g.139474C>G
NG_013358.2:g.139474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1472C>G	ENSP00000468516.4:p.Pro491Arg
ENST00000651901.2:c.1496C>G	ENSP00000498922.2:p.Pro499Arg
ENST00000698359.1:c.1361C>G	ENSP00000513682.1:p.Pro454Arg
ENST00000698360.1:c.1457C>G	ENSP00000513683.1:p.Pro486Arg
ENST00000698361.1:c.*34C>G	ENSP00000513684.1:n.*34C>G
ENST00000698362.1:c.*543C>G	ENSP00000513685.1:n.*543C>G
ENST00000698426.1:c.1085C>G	ENSP00000513713.1:p.Pro362Arg
ENST00000698427.1:c.1448C>G	ENSP00000513714.1:p.Pro483Arg
ENST00000698428.1:c.1085C>G	ENSP00000513715.1:p.Pro362Arg
ENST00000698429.1:n.1289C>G
ENST00000698430.1:c.1656C>G
ENST00000698431.1:c.1143C>G	ENSP00000513717.1:n.1143C>G
ENST00000698432.1:c.1215C>G
ENST00000698433.1:n.868C>G
ENST00000244137.12:c.1406C>G MANE Select	ENSP00000244137.5:p.Pro469Arg
ENST00000588328.6:c.1461C>G
ENST00000651901.1:c.1492C>G
ENST00000244137.11:c.1406C>G	ENSP00000244137.5:p.Pro469Arg
ENST00000397032.8:c.1283C>G	ENSP00000380226.3:p.Pro428Arg
ENST00000436370.7:c.1214C>G	ENSP00000391890.2:p.Pro405Arg
ENST00000589598.5:n.131C>G
ENST00000591968.1:n.478C>G
ENST00000593085.1:n.1293C>G
NM_000285.3:c.1406C>G	NP_000276.2:p.Pro469Arg
NM_001166056.1:c.1283C>G	NP_001159528.1:p.Pro428Arg
NM_001166057.1:c.1214C>G	NP_001159529.1:p.Pro405Arg
NM_000285.4:c.1406C>G MANE Select	NP_000276.2:p.Pro469Arg
NM_001166056.2:c.1283C>G	NP_001159528.1:p.Pro428Arg
NM_001166057.2:c.1214C>G	NP_001159529.1:p.Pro405Arg