Canonical Allele Identifier: CA14687849

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33391058G>T , CM000681.2:g.33391058G>T	GRCh38
NC_000019.9:g.33881964G>T , CM000681.1:g.33881964G>T	GRCh37
NC_000019.8:g.38573804G>T	NCBI36
NG_013358.1:g.135836C>A
NG_013358.2:g.135836C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000285.4:c.1152+237C>A MANE Select	NP_000276.2:n.1152+237C>A
ENST00000244137.12:c.1152+237C>A MANE Select	ENSP00000244137.5:n.1152+237C>A
NM_000285.3:c.1152+237C>A	NP_000276.2:n.1152+237C>A
NM_001166056.1:c.1029+237C>A	NP_001159528.1:n.1029+237C>A
NM_001166056.2:c.1029+237C>A	NP_001159528.1:n.1029+237C>A
NM_001166057.1:c.960+237C>A	NP_001159529.1:n.960+237C>A
NM_001166057.2:c.960+237C>A	NP_001159529.1:n.960+237C>A
ENST00000244137.11:c.1152+237C>A	ENSP00000244137.5:n.1152+237C>A
ENST00000397032.8:c.1029+237C>A	ENSP00000380226.3:n.1029+237C>A
ENST00000436370.7:c.960+237C>A	ENSP00000391890.2:n.960+237C>A
ENST00000588328.6:c.1207+237C>A
ENST00000588328.7:c.1218+237C>A	ENSP00000468516.4:n.1218+237C>A
ENST00000590731.6:n.827+237C>A
ENST00000591968.1:n.224+237C>A
ENST00000651901.1:c.1148+237C>A
ENST00000651901.2:c.1152+237C>A	ENSP00000498922.2:n.1152+237C>A
ENST00000698359.1:c.1107+237C>A	ENSP00000513682.1:n.1107+237C>A
ENST00000698360.1:c.1203+237C>A	ENSP00000513683.1:n.1203+237C>A
ENST00000698361.1:c.1152+237C>A	ENSP00000513684.1:n.1152+237C>A
ENST00000698362.1:c.968-2977C>A	ENSP00000513685.1:n.968-2977C>A
ENST00000698426.1:c.831+237C>A	ENSP00000513713.1:n.831+237C>A
ENST00000698427.1:c.1194+237C>A	ENSP00000513714.1:n.1194+237C>A
ENST00000698428.1:c.831+237C>A	ENSP00000513715.1:n.831+237C>A
ENST00000698429.1:n.1035+237C>A
ENST00000698430.1:c.1402+237C>A
ENST00000698431.1:c.889+237C>A	ENSP00000513717.1:n.889+237C>A
ENST00000698432.1:c.961+237C>A
ENST00000698433.1:n.614+237C>A