Canonical Allele Identifier: CA405226286

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33411721C>A , CM000681.2:g.33411721C>A	GRCh38
NC_000019.9:g.33902627C>A , CM000681.1:g.33902627C>A	GRCh37
NC_000019.8:g.38594467C>A	NCBI36
NG_013358.1:g.115173G>T
NG_013358.2:g.115173G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.769G>T	ENSP00000468516.4:p.Gly257Ter
ENST00000651901.2:c.769G>T	ENSP00000498922.2:p.Gly257Ter
ENST00000698359.1:c.724G>T	ENSP00000513682.1:p.Gly242Ter
ENST00000698360.1:c.820G>T	ENSP00000513683.1:p.Gly274Ter
ENST00000698361.1:c.769G>T	ENSP00000513684.1:p.Gly257Ter
ENST00000698362.1:c.769G>T	ENSP00000513685.1:p.Gly257Ter
ENST00000698363.1:n.832G>T
ENST00000698364.1:n.832G>T
ENST00000698365.1:n.832G>T
ENST00000698426.1:c.448G>T	ENSP00000513713.1:p.Gly150Ter
ENST00000698427.1:c.811G>T	ENSP00000513714.1:p.Gly271Ter
ENST00000698428.1:c.448G>T	ENSP00000513715.1:p.Gly150Ter
ENST00000698429.1:n.652G>T
ENST00000698430.1:c.1019G>T
ENST00000698431.1:c.506G>T	ENSP00000513717.1:n.506G>T
ENST00000698432.1:c.578G>T
ENST00000698433.1:n.231G>T
ENST00000698434.1:n.256G>T
ENST00000698435.1:c.457G>T	ENSP00000513719.1:p.Gly153Ter
ENST00000244137.12:c.769G>T MANE Select	ENSP00000244137.5:p.Gly257Ter
ENST00000588328.6:c.758G>T
ENST00000590731.6:n.444G>T
ENST00000651901.1:c.765G>T
ENST00000244137.11:c.769G>T	ENSP00000244137.5:p.Gly257Ter
ENST00000397032.8:c.646G>T	ENSP00000380226.3:p.Gly216Ter
ENST00000436370.7:c.577G>T	ENSP00000391890.2:p.Gly193Ter
ENST00000588328.5:c.260G>T
ENST00000588719.5:n.404G>T
ENST00000590731.5:n.444G>T
ENST00000593163.5:n.934G>T
ENST00000609145.5:c.202G>T	ENSP00000476514.1:p.Gly68Ter
NM_000285.3:c.769G>T	NP_000276.2:p.Gly257Ter
NM_001166056.1:c.646G>T	NP_001159528.1:p.Gly216Ter
NM_001166057.1:c.577G>T	NP_001159529.1:p.Gly193Ter
NM_000285.4:c.769G>T MANE Select	NP_000276.2:p.Gly257Ter
NM_001166056.2:c.646G>T	NP_001159528.1:p.Gly216Ter
NM_001166057.2:c.577G>T	NP_001159529.1:p.Gly193Ter