Canonical Allele Identifier: CA405219441

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878287C>A (hg19) ; chr19:g.33387381C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387381C>A , CM000681.2:g.33387381C>A	GRCh38
NC_000019.9:g.33878287C>A , CM000681.1:g.33878287C>A	GRCh37
NC_000019.8:g.38570127C>A	NCBI36
NG_013358.1:g.139513G>T
NG_013358.2:g.139513G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1511G>T	ENSP00000468516.4:p.Cys504Phe
ENST00000651901.2:c.1535G>T	ENSP00000498922.2:p.Cys512Phe
ENST00000698359.1:c.1400G>T	ENSP00000513682.1:p.Cys467Phe
ENST00000698360.1:c.1496G>T	ENSP00000513683.1:p.Cys499Phe
ENST00000698361.1:c.*73G>T	ENSP00000513684.1:n.*73G>T
ENST00000698362.1:c.*582G>T	ENSP00000513685.1:n.*582G>T
ENST00000698426.1:c.1124G>T	ENSP00000513713.1:p.Cys375Phe
ENST00000698427.1:c.1487G>T	ENSP00000513714.1:p.Cys496Phe
ENST00000698428.1:c.1124G>T	ENSP00000513715.1:p.Cys375Phe
ENST00000698429.1:n.1328G>T
ENST00000698430.1:c.1695G>T
ENST00000698431.1:c.1182G>T	ENSP00000513717.1:n.1182G>T
ENST00000698432.1:c.1254G>T
ENST00000698433.1:n.907G>T
ENST00000244137.12:c.1445G>T MANE Select	ENSP00000244137.5:p.Cys482Phe
ENST00000588328.6:c.1500G>T
ENST00000651901.1:c.1531G>T
ENST00000244137.11:c.1445G>T	ENSP00000244137.5:p.Cys482Phe
ENST00000397032.8:c.1322G>T	ENSP00000380226.3:p.Cys441Phe
ENST00000436370.7:c.1253G>T	ENSP00000391890.2:p.Cys418Phe
ENST00000589598.5:n.170G>T
ENST00000591968.1:n.517G>T
ENST00000593085.1:n.1332G>T
NM_000285.3:c.1445G>T	NP_000276.2:p.Cys482Phe
NM_001166056.1:c.1322G>T	NP_001159528.1:p.Cys441Phe
NM_001166057.1:c.1253G>T	NP_001159529.1:p.Cys418Phe
NM_000285.4:c.1445G>T MANE Select	NP_000276.2:p.Cys482Phe
NM_001166056.2:c.1322G>T	NP_001159528.1:p.Cys441Phe
NM_001166057.2:c.1253G>T	NP_001159529.1:p.Cys418Phe