Canonical Allele Identifier: CA405219427

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878285C>A (hg19) ; chr19:g.33387379C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387379C>A , CM000681.2:g.33387379C>A	GRCh38
NC_000019.9:g.33878285C>A , CM000681.1:g.33878285C>A	GRCh37
NC_000019.8:g.38570125C>A	NCBI36
NG_013358.1:g.139515G>T
NG_013358.2:g.139515G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1513G>T	ENSP00000468516.4:p.Asp505Tyr
ENST00000651901.2:c.1537G>T	ENSP00000498922.2:p.Asp513Tyr
ENST00000698359.1:c.1402G>T	ENSP00000513682.1:p.Asp468Tyr
ENST00000698360.1:c.1498G>T	ENSP00000513683.1:p.Asp500Tyr
ENST00000698361.1:c.*75G>T	ENSP00000513684.1:n.*75G>T
ENST00000698362.1:c.*584G>T	ENSP00000513685.1:n.*584G>T
ENST00000698426.1:c.1126G>T	ENSP00000513713.1:p.Asp376Tyr
ENST00000698427.1:c.1489G>T	ENSP00000513714.1:p.Asp497Tyr
ENST00000698428.1:c.1126G>T	ENSP00000513715.1:p.Asp376Tyr
ENST00000698429.1:n.1330G>T
ENST00000698430.1:c.1697G>T
ENST00000698431.1:c.1184G>T	ENSP00000513717.1:n.1184G>T
ENST00000698432.1:c.1256G>T
ENST00000698433.1:n.909G>T
ENST00000244137.12:c.1447G>T MANE Select	ENSP00000244137.5:p.Asp483Tyr
ENST00000588328.6:c.1502G>T
ENST00000651901.1:c.1533G>T
ENST00000244137.11:c.1447G>T	ENSP00000244137.5:p.Asp483Tyr
ENST00000397032.8:c.1324G>T	ENSP00000380226.3:p.Asp442Tyr
ENST00000436370.7:c.1255G>T	ENSP00000391890.2:p.Asp419Tyr
ENST00000589598.5:n.172G>T
ENST00000591968.1:n.519G>T
ENST00000593085.1:n.1334G>T
NM_000285.3:c.1447G>T	NP_000276.2:p.Asp483Tyr
NM_001166056.1:c.1324G>T	NP_001159528.1:p.Asp442Tyr
NM_001166057.1:c.1255G>T	NP_001159529.1:p.Asp419Tyr
NM_000285.4:c.1447G>T MANE Select	NP_000276.2:p.Asp483Tyr
NM_001166056.2:c.1324G>T	NP_001159528.1:p.Asp442Tyr
NM_001166057.2:c.1255G>T	NP_001159529.1:p.Asp419Tyr