Canonical Allele Identifier: CA9364072

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401742C>T , CM000681.2:g.33401742C>T	GRCh38
NC_000019.9:g.33892648C>T , CM000681.1:g.33892648C>T	GRCh37
NC_000019.8:g.38584488C>T	NCBI36
NG_013358.1:g.125152G>A
NG_013358.2:g.125152G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000285.4:c.946G>A MANE Select	NP_000276.2:p.Val316Ile
ENST00000244137.12:c.946G>A MANE Select	ENSP00000244137.5:p.Val316Ile
NM_000285.3:c.946G>A	NP_000276.2:p.Val316Ile
NM_001166056.1:c.823G>A	NP_001159528.1:p.Val275Ile
NM_001166056.2:c.823G>A	NP_001159528.1:p.Val275Ile
NM_001166057.1:c.754G>A	NP_001159529.1:p.Val252Ile
NM_001166057.2:c.754G>A	NP_001159529.1:p.Val252Ile
ENST00000244137.11:c.946G>A	ENSP00000244137.5:p.Val316Ile
ENST00000397032.8:c.823G>A	ENSP00000380226.3:p.Val275Ile
ENST00000436370.7:c.754G>A	ENSP00000391890.2:p.Val252Ile
ENST00000588328.5:c.437G>A
ENST00000588328.6:c.935G>A
ENST00000588328.7:c.946G>A	ENSP00000468516.4:p.Val316Ile
ENST00000590731.6:n.621G>A
ENST00000651901.1:c.942G>A
ENST00000651901.2:c.946G>A	ENSP00000498922.2:p.Val316Ile
ENST00000698359.1:c.901G>A	ENSP00000513682.1:p.Val301Ile
ENST00000698360.1:c.997G>A	ENSP00000513683.1:p.Val333Ile
ENST00000698361.1:c.946G>A	ENSP00000513684.1:p.Val316Ile
ENST00000698362.1:c.946G>A	ENSP00000513685.1:p.Val316Ile
ENST00000698363.1:n.1009G>A
ENST00000698364.1:n.1009G>A
ENST00000698365.1:n.1009G>A
ENST00000698426.1:c.625G>A	ENSP00000513713.1:p.Val209Ile
ENST00000698427.1:c.988G>A	ENSP00000513714.1:p.Val330Ile
ENST00000698428.1:c.625G>A	ENSP00000513715.1:p.Val209Ile
ENST00000698429.1:n.829G>A
ENST00000698430.1:c.1196G>A
ENST00000698431.1:c.683G>A	ENSP00000513717.1:n.683G>A
ENST00000698432.1:c.755G>A
ENST00000698433.1:n.408G>A
ENST00000698434.1:n.433G>A