Canonical Allele Identifier: CA405219281

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387354-C-T
• MyVariant Identifiers: chr19:g.33878260C>T (hg19) ; chr19:g.33387354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387354C>T , CM000681.2:g.33387354C>T	GRCh38
NC_000019.9:g.33878260C>T , CM000681.1:g.33878260C>T	GRCh37
NC_000019.8:g.38570100C>T	NCBI36
NG_013358.1:g.139540G>A
NG_013358.2:g.139540G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1538G>A	ENSP00000468516.4:p.Gly513Asp
ENST00000651901.2:c.1562G>A	ENSP00000498922.2:p.Gly521Asp
ENST00000698359.1:c.1427G>A	ENSP00000513682.1:p.Gly476Asp
ENST00000698360.1:c.1523G>A	ENSP00000513683.1:p.Gly508Asp
ENST00000698361.1:c.*100G>A	ENSP00000513684.1:n.*100G>A
ENST00000698362.1:c.*609G>A	ENSP00000513685.1:n.*609G>A
ENST00000698426.1:c.1151G>A	ENSP00000513713.1:p.Gly384Asp
ENST00000698427.1:c.1514G>A	ENSP00000513714.1:p.Gly505Asp
ENST00000698428.1:c.1151G>A	ENSP00000513715.1:p.Gly384Asp
ENST00000698429.1:n.1355G>A
ENST00000698430.1:c.1722G>A
ENST00000698431.1:c.1209G>A	ENSP00000513717.1:n.1209G>A
ENST00000698432.1:c.1281G>A
ENST00000698433.1:n.934G>A
ENST00000244137.12:c.1472G>A MANE Select	ENSP00000244137.5:p.Gly491Asp
ENST00000588328.6:c.1527G>A
ENST00000651901.1:c.1558G>A
ENST00000244137.11:c.1472G>A	ENSP00000244137.5:p.Gly491Asp
ENST00000397032.8:c.1349G>A	ENSP00000380226.3:p.Gly450Asp
ENST00000436370.7:c.1280G>A	ENSP00000391890.2:p.Gly427Asp
ENST00000589598.5:n.197G>A
ENST00000591968.1:n.544G>A
ENST00000593085.1:n.1359G>A
NM_000285.3:c.1472G>A	NP_000276.2:p.Gly491Asp
NM_001166056.1:c.1349G>A	NP_001159528.1:p.Gly450Asp
NM_001166057.1:c.1280G>A	NP_001159529.1:p.Gly427Asp
NM_000285.4:c.1472G>A MANE Select	NP_000276.2:p.Gly491Asp
NM_001166056.2:c.1349G>A	NP_001159528.1:p.Gly450Asp
NM_001166057.2:c.1280G>A	NP_001159529.1:p.Gly427Asp