Canonical Allele Identifier: CA9364000

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33391313G>A , CM000681.2:g.33391313G>A	GRCh38
NC_000019.9:g.33882219G>A , CM000681.1:g.33882219G>A	GRCh37
NC_000019.8:g.38574059G>A	NCBI36
NG_013358.1:g.135581C>T
NG_013358.2:g.135581C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000285.4:c.1134C>T MANE Select	NP_000276.2:p.Asp378=
ENST00000244137.12:c.1134C>T MANE Select	ENSP00000244137.5:p.Asp378=
NM_000285.3:c.1134C>T	NP_000276.2:p.Asp378=
NM_001166056.1:c.1011C>T	NP_001159528.1:p.Asp337=
NM_001166056.2:c.1011C>T	NP_001159528.1:p.Asp337=
NM_001166057.1:c.942C>T	NP_001159529.1:p.Asp314=
NM_001166057.2:c.942C>T	NP_001159529.1:p.Asp314=
ENST00000244137.11:c.1134C>T	ENSP00000244137.5:p.Asp378=
ENST00000397032.8:c.1011C>T	ENSP00000380226.3:p.Asp337=
ENST00000436370.7:c.942C>T	ENSP00000391890.2:p.Asp314=
ENST00000588328.6:c.1189C>T
ENST00000588328.7:c.1200C>T	ENSP00000468516.4:p.Asp400=
ENST00000590731.6:n.809C>T
ENST00000591968.1:n.206C>T
ENST00000651901.1:c.1130C>T
ENST00000651901.2:c.1134C>T	ENSP00000498922.2:p.Asp378=
ENST00000698359.1:c.1089C>T	ENSP00000513682.1:p.Asp363=
ENST00000698360.1:c.1185C>T	ENSP00000513683.1:p.Asp395=
ENST00000698361.1:c.1134C>T	ENSP00000513684.1:p.Asp378=
ENST00000698362.1:c.968-3232C>T	ENSP00000513685.1:n.968-3232C>T
ENST00000698426.1:c.813C>T	ENSP00000513713.1:p.Asp271=
ENST00000698427.1:c.1176C>T	ENSP00000513714.1:p.Asp392=
ENST00000698428.1:c.813C>T	ENSP00000513715.1:p.Asp271=
ENST00000698429.1:n.1017C>T
ENST00000698430.1:c.1384C>T
ENST00000698431.1:c.871C>T	ENSP00000513717.1:n.871C>T
ENST00000698432.1:c.943C>T
ENST00000698433.1:n.596C>T