Canonical Allele Identifier: CA405219650

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878327G>C (hg19) ; chr19:g.33387421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387421G>C , CM000681.2:g.33387421G>C	GRCh38
NC_000019.9:g.33878327G>C , CM000681.1:g.33878327G>C	GRCh37
NC_000019.8:g.38570167G>C	NCBI36
NG_013358.1:g.139473C>G
NG_013358.2:g.139473C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1471C>G	ENSP00000468516.4:p.Pro491Ala
ENST00000651901.2:c.1495C>G	ENSP00000498922.2:p.Pro499Ala
ENST00000698359.1:c.1360C>G	ENSP00000513682.1:p.Pro454Ala
ENST00000698360.1:c.1456C>G	ENSP00000513683.1:p.Pro486Ala
ENST00000698361.1:c.*33C>G	ENSP00000513684.1:n.*33C>G
ENST00000698362.1:c.*542C>G	ENSP00000513685.1:n.*542C>G
ENST00000698426.1:c.1084C>G	ENSP00000513713.1:p.Pro362Ala
ENST00000698427.1:c.1447C>G	ENSP00000513714.1:p.Pro483Ala
ENST00000698428.1:c.1084C>G	ENSP00000513715.1:p.Pro362Ala
ENST00000698429.1:n.1288C>G
ENST00000698430.1:c.1655C>G
ENST00000698431.1:c.1142C>G	ENSP00000513717.1:n.1142C>G
ENST00000698432.1:c.1214C>G
ENST00000698433.1:n.867C>G
ENST00000244137.12:c.1405C>G MANE Select	ENSP00000244137.5:p.Pro469Ala
ENST00000588328.6:c.1460C>G
ENST00000651901.1:c.1491C>G
ENST00000244137.11:c.1405C>G	ENSP00000244137.5:p.Pro469Ala
ENST00000397032.8:c.1282C>G	ENSP00000380226.3:p.Pro428Ala
ENST00000436370.7:c.1213C>G	ENSP00000391890.2:p.Pro405Ala
ENST00000589598.5:n.130C>G
ENST00000591968.1:n.477C>G
ENST00000593085.1:n.1292C>G
NM_000285.3:c.1405C>G	NP_000276.2:p.Pro469Ala
NM_001166056.1:c.1282C>G	NP_001159528.1:p.Pro428Ala
NM_001166057.1:c.1213C>G	NP_001159529.1:p.Pro405Ala
NM_000285.4:c.1405C>G MANE Select	NP_000276.2:p.Pro469Ala
NM_001166056.2:c.1282C>G	NP_001159528.1:p.Pro428Ala
NM_001166057.2:c.1213C>G	NP_001159529.1:p.Pro405Ala