Canonical Allele Identifier: CA9364186

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33413637G>A , CM000681.2:g.33413637G>A	GRCh38
NC_000019.9:g.33904543G>A , CM000681.1:g.33904543G>A	GRCh37
NC_000019.8:g.38596383G>A	NCBI36
NG_013358.1:g.113257C>T
NG_013358.2:g.113257C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000285.4:c.678C>T MANE Select	NP_000276.2:p.Phe226=
ENST00000244137.12:c.678C>T MANE Select	ENSP00000244137.5:p.Phe226=
NM_000285.3:c.678C>T	NP_000276.2:p.Phe226=
NM_001166056.1:c.555C>T	NP_001159528.1:p.Phe185=
NM_001166056.2:c.555C>T	NP_001159528.1:p.Phe185=
NM_001166057.1:c.486C>T	NP_001159529.1:p.Phe162=
NM_001166057.2:c.486C>T	NP_001159529.1:p.Phe162=
ENST00000244137.11:c.678C>T	ENSP00000244137.5:p.Phe226=
ENST00000397032.8:c.555C>T	ENSP00000380226.3:p.Phe185=
ENST00000436370.7:c.486C>T	ENSP00000391890.2:p.Phe162=
ENST00000588328.5:c.169C>T
ENST00000588328.6:c.667C>T
ENST00000588328.7:c.678C>T	ENSP00000468516.4:p.Phe226=
ENST00000588719.5:n.313C>T
ENST00000590731.5:n.353C>T
ENST00000590731.6:n.353C>T
ENST00000593163.5:n.843C>T
ENST00000609145.5:c.111C>T	ENSP00000476514.1:p.Phe37=
ENST00000651901.1:c.674C>T
ENST00000651901.2:c.678C>T	ENSP00000498922.2:p.Phe226=
ENST00000698359.1:c.633C>T	ENSP00000513682.1:p.Phe211=
ENST00000698360.1:c.678C>T	ENSP00000513683.1:p.Phe226=
ENST00000698361.1:c.678C>T	ENSP00000513684.1:p.Phe226=
ENST00000698362.1:c.678C>T	ENSP00000513685.1:p.Phe226=
ENST00000698363.1:n.741C>T
ENST00000698364.1:n.741C>T
ENST00000698365.1:n.741C>T
ENST00000698426.1:c.357C>T	ENSP00000513713.1:p.Phe119=
ENST00000698427.1:c.720C>T	ENSP00000513714.1:p.Phe240=
ENST00000698428.1:c.357C>T	ENSP00000513715.1:p.Phe119=
ENST00000698429.1:n.561C>T
ENST00000698430.1:c.928C>T
ENST00000698431.1:c.415C>T	ENSP00000513717.1:n.415C>T
ENST00000698432.1:c.487C>T
ENST00000698433.1:n.140C>T
ENST00000698434.1:n.165C>T
ENST00000698435.1:c.366C>T	ENSP00000513719.1:p.Phe122=
ENST00000698436.1:c.*290C>T	ENSP00000513720.1:n.*290C>T