Canonical Allele Identifier: CA405231042
Community Standard Title: NM_000285.4(PEPD):c.418A>T (p.Lys140Ter)
Gene: PEPD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33493313T>A , CM000681.2:g.33493313T>A GRCh38
NC_000019.9:g.33984219T>A , CM000681.1:g.33984219T>A GRCh37
NC_000019.8:g.38676059T>A NCBI36
NG_013358.1:g.33581A>T
NG_013358.2:g.33581A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000285.4:c.418A>T MANE Select NP_000276.2:p.Lys140Ter
ENST00000244137.12:c.418A>T MANE Select ENSP00000244137.5:p.Lys140Ter
NM_000285.3:c.418A>T NP_000276.2:p.Lys140Ter
NM_001166056.1:c.418A>T NP_001159528.1:p.Lys140Ter
NM_001166056.2:c.418A>T NP_001159528.1:p.Lys140Ter
NM_001166057.1:c.226A>T NP_001159529.1:p.Lys76Ter
NM_001166057.2:c.226A>T NP_001159529.1:p.Lys76Ter
ENST00000244137.11:c.418A>T ENSP00000244137.5:p.Lys140Ter
ENST00000397032.8:c.418A>T ENSP00000380226.3:p.Lys140Ter
ENST00000436370.7:c.226A>T ENSP00000391890.2:p.Lys76Ter
ENST00000588328.6:c.407A>T
ENST00000588328.7:c.418A>T ENSP00000468516.4:p.Lys140Ter
ENST00000590408.1:c.136A>T
ENST00000590755.6:c.25A>T ENSP00000476667.1:p.Lys9Ter
ENST00000593163.5:n.583A>T
ENST00000609145.5:c.-150A>T ENSP00000476514.1:n.-150A>T
ENST00000651646.1:c.416A>T
ENST00000651646.2:c.418A>T ENSP00000498950.2:p.Lys140Ter
ENST00000651901.1:c.414A>T
ENST00000651901.2:c.418A>T ENSP00000498922.2:p.Lys140Ter
ENST00000698359.1:c.418A>T ENSP00000513682.1:p.Lys140Ter
ENST00000698360.1:c.418A>T ENSP00000513683.1:p.Lys140Ter
ENST00000698361.1:c.418A>T ENSP00000513684.1:p.Lys140Ter
ENST00000698362.1:c.418A>T ENSP00000513685.1:p.Lys140Ter
ENST00000698363.1:n.481A>T
ENST00000698364.1:n.481A>T
ENST00000698365.1:n.481A>T
ENST00000698426.1:c.97A>T ENSP00000513713.1:p.Lys33Ter
ENST00000698427.1:c.460A>T ENSP00000513714.1:p.Lys154Ter
ENST00000698428.1:c.97A>T ENSP00000513715.1:p.Lys33Ter
ENST00000698430.1:c.668A>T
ENST00000698431.1:c.217A>T ENSP00000513717.1:p.Lys73Ter
ENST00000698432.1:c.313-15223A>T
ENST00000698435.1:c.106A>T ENSP00000513719.1:p.Lys36Ter
ENST00000698436.1:c.*30A>T ENSP00000513720.1:n.*30A>T
ENST00000698437.1:n.401A>T
ENST00000698438.1:n.400A>T
ENST00000698439.1:c.360+7625A>T ENSP00000513721.1:n.360+7625A>T