Canonical Allele Identifier: CA9364006

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33391322G>A , CM000681.2:g.33391322G>A	GRCh38
NC_000019.9:g.33882228G>A , CM000681.1:g.33882228G>A	GRCh37
NC_000019.8:g.38574068G>A	NCBI36
NG_013358.1:g.135572C>T
NG_013358.2:g.135572C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000285.4:c.1125C>T MANE Select	NP_000276.2:p.Asp375=
ENST00000244137.12:c.1125C>T MANE Select	ENSP00000244137.5:p.Asp375=
NM_000285.3:c.1125C>T	NP_000276.2:p.Asp375=
NM_001166056.1:c.1002C>T	NP_001159528.1:p.Asp334=
NM_001166056.2:c.1002C>T	NP_001159528.1:p.Asp334=
NM_001166057.1:c.933C>T	NP_001159529.1:p.Asp311=
NM_001166057.2:c.933C>T	NP_001159529.1:p.Asp311=
ENST00000244137.11:c.1125C>T	ENSP00000244137.5:p.Asp375=
ENST00000397032.8:c.1002C>T	ENSP00000380226.3:p.Asp334=
ENST00000436370.7:c.933C>T	ENSP00000391890.2:p.Asp311=
ENST00000588328.6:c.1180C>T
ENST00000588328.7:c.1191C>T	ENSP00000468516.4:p.Asp397=
ENST00000590731.6:n.800C>T
ENST00000591968.1:n.197C>T
ENST00000651901.1:c.1121C>T
ENST00000651901.2:c.1125C>T	ENSP00000498922.2:p.Asp375=
ENST00000698359.1:c.1080C>T	ENSP00000513682.1:p.Asp360=
ENST00000698360.1:c.1176C>T	ENSP00000513683.1:p.Asp392=
ENST00000698361.1:c.1125C>T	ENSP00000513684.1:p.Asp375=
ENST00000698362.1:c.968-3241C>T	ENSP00000513685.1:n.968-3241C>T
ENST00000698426.1:c.804C>T	ENSP00000513713.1:p.Asp268=
ENST00000698427.1:c.1167C>T	ENSP00000513714.1:p.Asp389=
ENST00000698428.1:c.804C>T	ENSP00000513715.1:p.Asp268=
ENST00000698429.1:n.1008C>T
ENST00000698430.1:c.1375C>T
ENST00000698431.1:c.862C>T	ENSP00000513717.1:n.862C>T
ENST00000698432.1:c.934C>T
ENST00000698433.1:n.587C>T