Canonical Allele Identifier: CA9364494

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33512694G>A , CM000681.2:g.33512694G>A	GRCh38
NC_000019.9:g.34003600G>A , CM000681.1:g.34003600G>A	GRCh37
NC_000019.8:g.38695440G>A	NCBI36
NG_013358.1:g.14200C>T
NG_013358.2:g.14200C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000285.4:c.100C>T MANE Select	NP_000276.2:p.Leu34=
ENST00000244137.12:c.100C>T MANE Select	ENSP00000244137.5:p.Leu34=
NM_000285.3:c.100C>T	NP_000276.2:p.Leu34=
NM_001166056.1:c.100C>T	NP_001159528.1:p.Leu34=
NM_001166056.2:c.100C>T	NP_001159528.1:p.Leu34=
NM_001166057.1:c.100C>T	NP_001159529.1:p.Leu34=
NM_001166057.2:c.100C>T	NP_001159529.1:p.Leu34=
ENST00000244137.11:c.100C>T	ENSP00000244137.5:p.Leu34=
ENST00000397032.8:c.100C>T	ENSP00000380226.3:p.Leu34=
ENST00000436370.7:c.100C>T	ENSP00000391890.2:p.Leu34=
ENST00000588328.6:c.89C>T
ENST00000588328.7:c.100C>T	ENSP00000468516.4:p.Leu34=
ENST00000651646.1:c.98C>T
ENST00000651646.2:c.100C>T	ENSP00000498950.2:p.Leu34=
ENST00000651901.1:c.96C>T
ENST00000651901.2:c.100C>T	ENSP00000498922.2:p.Leu34=
ENST00000698359.1:c.100C>T	ENSP00000513682.1:p.Leu34=
ENST00000698360.1:c.100C>T	ENSP00000513683.1:p.Leu34=
ENST00000698361.1:c.100C>T	ENSP00000513684.1:p.Leu34=
ENST00000698362.1:c.100C>T	ENSP00000513685.1:p.Leu34=
ENST00000698363.1:n.163C>T
ENST00000698364.1:n.163C>T
ENST00000698365.1:n.163C>T
ENST00000698426.1:c.-222C>T	ENSP00000513713.1:n.-222C>T
ENST00000698427.1:c.142C>T	ENSP00000513714.1:p.Leu48=
ENST00000698428.1:c.-222C>T	ENSP00000513715.1:n.-222C>T
ENST00000698432.1:c.83C>T
ENST00000698435.1:c.17+9050C>T	ENSP00000513719.1:n.17+9050C>T
ENST00000698436.1:c.100C>T	ENSP00000513720.1:p.Leu34=
ENST00000698437.1:n.83C>T
ENST00000698438.1:n.82C>T
ENST00000698439.1:c.67C>T	ENSP00000513721.1:p.Leu23=