Canonical Allele Identifier: CA14659311
Community Standard Title: NM_000285.4(PEPD):c.441+146A>G
Gene: PEPD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33493144T>C , CM000681.2:g.33493144T>C GRCh38
NC_000019.9:g.33984050T>C , CM000681.1:g.33984050T>C GRCh37
NC_000019.8:g.38675890T>C NCBI36
NG_013358.1:g.33750A>G
NG_013358.2:g.33750A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000285.4:c.441+146A>G MANE Select NP_000276.2:n.441+146A>G
ENST00000244137.12:c.441+146A>G MANE Select ENSP00000244137.5:n.441+146A>G
NM_000285.3:c.441+146A>G NP_000276.2:n.441+146A>G
NM_001166056.1:c.441+146A>G NP_001159528.1:n.441+146A>G
NM_001166056.2:c.441+146A>G NP_001159528.1:n.441+146A>G
NM_001166057.1:c.249+146A>G NP_001159529.1:n.249+146A>G
NM_001166057.2:c.249+146A>G NP_001159529.1:n.249+146A>G
ENST00000244137.11:c.441+146A>G ENSP00000244137.5:n.441+146A>G
ENST00000397032.8:c.441+146A>G ENSP00000380226.3:n.441+146A>G
ENST00000436370.7:c.249+146A>G ENSP00000391890.2:n.249+146A>G
ENST00000588328.6:c.430+146A>G
ENST00000588328.7:c.441+146A>G ENSP00000468516.4:n.441+146A>G
ENST00000590408.1:c.159+146A>G
ENST00000590755.6:c.48+146A>G ENSP00000476667.1:n.48+146A>G
ENST00000593163.5:n.606+146A>G
ENST00000609145.5:c.-127+146A>G ENSP00000476514.1:n.-127+146A>G
ENST00000651646.1:c.439+146A>G
ENST00000651646.2:c.441+146A>G ENSP00000498950.2:n.441+146A>G
ENST00000651901.1:c.437+146A>G
ENST00000651901.2:c.441+146A>G ENSP00000498922.2:n.441+146A>G
ENST00000698359.1:c.441+146A>G ENSP00000513682.1:n.441+146A>G
ENST00000698360.1:c.441+146A>G ENSP00000513683.1:n.441+146A>G
ENST00000698361.1:c.441+146A>G ENSP00000513684.1:n.441+146A>G
ENST00000698362.1:c.441+146A>G ENSP00000513685.1:n.441+146A>G
ENST00000698363.1:n.504+146A>G
ENST00000698364.1:n.504+146A>G
ENST00000698365.1:n.504+146A>G
ENST00000698426.1:c.120+146A>G ENSP00000513713.1:n.120+146A>G
ENST00000698427.1:c.483+146A>G ENSP00000513714.1:n.483+146A>G
ENST00000698428.1:c.120+146A>G ENSP00000513715.1:n.120+146A>G
ENST00000698430.1:c.691+146A>G
ENST00000698431.1:c.240+146A>G ENSP00000513717.1:n.240+146A>G
ENST00000698432.1:c.313-15054A>G
ENST00000698435.1:c.129+146A>G ENSP00000513719.1:n.129+146A>G
ENST00000698436.1:c.*53+146A>G ENSP00000513720.1:n.*53+146A>G
ENST00000698437.1:n.424+146A>G
ENST00000698438.1:n.423+146A>G
ENST00000698439.1:c.360+7794A>G ENSP00000513721.1:n.360+7794A>G