Canonical Allele Identifier: CA2584321413

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387289-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387289A>G , CM000681.2:g.33387289A>G	GRCh38
NC_000019.9:g.33878195A>G , CM000681.1:g.33878195A>G	GRCh37
NC_000019.8:g.38570035A>G	NCBI36
NG_013358.1:g.139605T>C
NG_013358.2:g.139605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*55T>C	ENSP00000468516.4:n.*55T>C
ENST00000651901.2:c.*55T>C	ENSP00000498922.2:n.*55T>C
ENST00000698359.1:c.*55T>C	ENSP00000513682.1:n.*55T>C
ENST00000698360.1:c.*55T>C	ENSP00000513683.1:n.*55T>C
ENST00000698361.1:c.*165T>C	ENSP00000513684.1:n.*165T>C
ENST00000698362.1:c.*674T>C	ENSP00000513685.1:n.*674T>C
ENST00000698426.1:c.*55T>C	ENSP00000513713.1:n.*55T>C
ENST00000698427.1:c.*55T>C	ENSP00000513714.1:n.*55T>C
ENST00000698428.1:c.*55T>C	ENSP00000513715.1:n.*55T>C
ENST00000698429.1:n.1420T>C
ENST00000698430.1:c.1787T>C
ENST00000698431.1:c.1274T>C	ENSP00000513717.1:n.1274T>C
ENST00000698432.1:c.1346T>C
ENST00000244137.12:c.*55T>C MANE Select	ENSP00000244137.5:n.*55T>C
ENST00000588328.6:c.1592T>C
ENST00000651901.1:c.1623T>C
ENST00000244137.11:c.*55T>C	ENSP00000244137.5:n.*55T>C
ENST00000397032.8:c.*55T>C	ENSP00000380226.3:n.*55T>C
ENST00000436370.7:c.*55T>C	ENSP00000391890.2:n.*55T>C
ENST00000589598.5:n.262T>C
ENST00000591968.1:n.609T>C
ENST00000593085.1:n.1424T>C
NM_000285.3:c.*55T>C	NP_000276.2:n.*55T>C
NM_001166056.1:c.*55T>C	NP_001159528.1:n.*55T>C
NM_001166057.1:c.*55T>C	NP_001159529.1:n.*55T>C
NM_000285.4:c.*55T>C MANE Select	NP_000276.2:n.*55T>C
NM_001166056.2:c.*55T>C	NP_001159528.1:n.*55T>C
NM_001166057.2:c.*55T>C	NP_001159529.1:n.*55T>C