Canonical Allele Identifier: CA9364492
Community Standard Title: NM_000285.4(PEPD):c.104G>A (p.Arg35Gln)
Gene: PEPD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33512690C>T , CM000681.2:g.33512690C>T GRCh38
NC_000019.9:g.34003596C>T , CM000681.1:g.34003596C>T GRCh37
NC_000019.8:g.38695436C>T NCBI36
NG_013358.1:g.14204G>A
NG_013358.2:g.14204G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000285.4:c.104G>A MANE Select NP_000276.2:p.Arg35Gln
ENST00000244137.12:c.104G>A MANE Select ENSP00000244137.5:p.Arg35Gln
NM_000285.3:c.104G>A NP_000276.2:p.Arg35Gln
NM_001166056.1:c.104G>A NP_001159528.1:p.Arg35Gln
NM_001166056.2:c.104G>A NP_001159528.1:p.Arg35Gln
NM_001166057.1:c.104G>A NP_001159529.1:p.Arg35Gln
NM_001166057.2:c.104G>A NP_001159529.1:p.Arg35Gln
ENST00000244137.11:c.104G>A ENSP00000244137.5:p.Arg35Gln
ENST00000397032.8:c.104G>A ENSP00000380226.3:p.Arg35Gln
ENST00000436370.7:c.104G>A ENSP00000391890.2:p.Arg35Gln
ENST00000588328.6:c.93G>A
ENST00000588328.7:c.104G>A ENSP00000468516.4:p.Arg35Gln
ENST00000651646.1:c.102G>A
ENST00000651646.2:c.104G>A ENSP00000498950.2:p.Arg35Gln
ENST00000651901.1:c.100G>A
ENST00000651901.2:c.104G>A ENSP00000498922.2:p.Arg35Gln
ENST00000698359.1:c.104G>A ENSP00000513682.1:p.Arg35Gln
ENST00000698360.1:c.104G>A ENSP00000513683.1:p.Arg35Gln
ENST00000698361.1:c.104G>A ENSP00000513684.1:p.Arg35Gln
ENST00000698362.1:c.104G>A ENSP00000513685.1:p.Arg35Gln
ENST00000698363.1:n.167G>A
ENST00000698364.1:n.167G>A
ENST00000698365.1:n.167G>A
ENST00000698426.1:c.-218G>A ENSP00000513713.1:n.-218G>A
ENST00000698427.1:c.146G>A ENSP00000513714.1:p.Arg49Gln
ENST00000698428.1:c.-218G>A ENSP00000513715.1:n.-218G>A
ENST00000698432.1:c.87G>A
ENST00000698435.1:c.17+9054G>A ENSP00000513719.1:n.17+9054G>A
ENST00000698436.1:c.104G>A ENSP00000513720.1:p.Arg35Gln
ENST00000698437.1:n.87G>A
ENST00000698438.1:n.86G>A
ENST00000698439.1:c.71G>A ENSP00000513721.1:p.Arg24Gln