Canonical Allele Identifier: CA405219290

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878261C>A (hg19) ; chr19:g.33387355C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387355C>A , CM000681.2:g.33387355C>A	GRCh38
NC_000019.9:g.33878261C>A , CM000681.1:g.33878261C>A	GRCh37
NC_000019.8:g.38570101C>A	NCBI36
NG_013358.1:g.139539G>T
NG_013358.2:g.139539G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1537G>T	ENSP00000468516.4:p.Gly513Cys
ENST00000651901.2:c.1561G>T	ENSP00000498922.2:p.Gly521Cys
ENST00000698359.1:c.1426G>T	ENSP00000513682.1:p.Gly476Cys
ENST00000698360.1:c.1522G>T	ENSP00000513683.1:p.Gly508Cys
ENST00000698361.1:c.*99G>T	ENSP00000513684.1:n.*99G>T
ENST00000698362.1:c.*608G>T	ENSP00000513685.1:n.*608G>T
ENST00000698426.1:c.1150G>T	ENSP00000513713.1:p.Gly384Cys
ENST00000698427.1:c.1513G>T	ENSP00000513714.1:p.Gly505Cys
ENST00000698428.1:c.1150G>T	ENSP00000513715.1:p.Gly384Cys
ENST00000698429.1:n.1354G>T
ENST00000698430.1:c.1721G>T
ENST00000698431.1:c.1208G>T	ENSP00000513717.1:n.1208G>T
ENST00000698432.1:c.1280G>T
ENST00000698433.1:n.933G>T
ENST00000244137.12:c.1471G>T MANE Select	ENSP00000244137.5:p.Gly491Cys
ENST00000588328.6:c.1526G>T
ENST00000651901.1:c.1557G>T
ENST00000244137.11:c.1471G>T	ENSP00000244137.5:p.Gly491Cys
ENST00000397032.8:c.1348G>T	ENSP00000380226.3:p.Gly450Cys
ENST00000436370.7:c.1279G>T	ENSP00000391890.2:p.Gly427Cys
ENST00000589598.5:n.196G>T
ENST00000591968.1:n.543G>T
ENST00000593085.1:n.1358G>T
NM_000285.3:c.1471G>T	NP_000276.2:p.Gly491Cys
NM_001166056.1:c.1348G>T	NP_001159528.1:p.Gly450Cys
NM_001166057.1:c.1279G>T	NP_001159529.1:p.Gly427Cys
NM_000285.4:c.1471G>T MANE Select	NP_000276.2:p.Gly491Cys
NM_001166056.2:c.1348G>T	NP_001159528.1:p.Gly450Cys
NM_001166057.2:c.1279G>T	NP_001159529.1:p.Gly427Cys