Canonical Allele Identifier: CA405219753

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878378C>G (hg19) ; chr19:g.33387472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387472C>G , CM000681.2:g.33387472C>G	GRCh38
NC_000019.9:g.33878378C>G , CM000681.1:g.33878378C>G	GRCh37
NC_000019.8:g.38570218C>G	NCBI36
NG_013358.1:g.139422G>C
NG_013358.2:g.139422G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1420G>C	ENSP00000468516.4:p.Glu474Gln
ENST00000651901.2:c.1444G>C	ENSP00000498922.2:p.Glu482Gln
ENST00000698359.1:c.1309G>C	ENSP00000513682.1:p.Glu437Gln
ENST00000698360.1:c.1405G>C	ENSP00000513683.1:p.Glu469Gln
ENST00000698361.1:c.1470G>C	ENSP00000513684.1:p.Ser490=
ENST00000698362.1:c.*491G>C	ENSP00000513685.1:n.*491G>C
ENST00000698426.1:c.1033G>C	ENSP00000513713.1:p.Glu345Gln
ENST00000698427.1:c.1396G>C	ENSP00000513714.1:p.Glu466Gln
ENST00000698428.1:c.1033G>C	ENSP00000513715.1:p.Glu345Gln
ENST00000698429.1:n.1237G>C
ENST00000698430.1:c.1604G>C
ENST00000698431.1:c.1091G>C	ENSP00000513717.1:n.1091G>C
ENST00000698432.1:c.1163G>C
ENST00000698433.1:n.816G>C
ENST00000244137.12:c.1354G>C MANE Select	ENSP00000244137.5:p.Glu452Gln
ENST00000588328.6:c.1409G>C
ENST00000651901.1:c.1440G>C
ENST00000244137.11:c.1354G>C	ENSP00000244137.5:p.Glu452Gln
ENST00000397032.8:c.1231G>C	ENSP00000380226.3:p.Glu411Gln
ENST00000436370.7:c.1162G>C	ENSP00000391890.2:p.Glu388Gln
ENST00000589598.5:n.79G>C
ENST00000591968.1:n.426G>C
ENST00000593085.1:n.1241G>C
NM_000285.3:c.1354G>C	NP_000276.2:p.Glu452Gln
NM_001166056.1:c.1231G>C	NP_001159528.1:p.Glu411Gln
NM_001166057.1:c.1162G>C	NP_001159529.1:p.Glu388Gln
NM_000285.4:c.1354G>C MANE Select	NP_000276.2:p.Glu452Gln
NM_001166056.2:c.1231G>C	NP_001159528.1:p.Glu411Gln
NM_001166057.2:c.1162G>C	NP_001159529.1:p.Glu388Gln