Canonical Allele Identifier: CA405219799
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387482C>G , CM000681.2:g.33387482C>G GRCh38
NC_000019.9:g.33878388C>G , CM000681.1:g.33878388C>G GRCh37
NC_000019.8:g.38570228C>G NCBI36
NG_013358.1:g.139412G>C
NG_013358.2:g.139412G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000588328.7:c.1411-1G>C ENSP00000468516.4:n.1411-1G>C
ENST00000651901.2:c.1435-1G>C ENSP00000498922.2:n.1435-1G>C
ENST00000698359.1:c.1300-1G>C ENSP00000513682.1:n.1300-1G>C
ENST00000698360.1:c.1396-1G>C ENSP00000513683.1:n.1396-1G>C
ENST00000698361.1:c.1461-1G>C ENSP00000513684.1:n.1461-1G>C
ENST00000698362.1:c.*481G>C ENSP00000513685.1:n.*481G>C
ENST00000698426.1:c.1024-1G>C ENSP00000513713.1:n.1024-1G>C
ENST00000698427.1:c.1387-1G>C ENSP00000513714.1:n.1387-1G>C
ENST00000698428.1:c.1024-1G>C ENSP00000513715.1:n.1024-1G>C
ENST00000698429.1:n.1228-1G>C
ENST00000698430.1:c.1595-1G>C
ENST00000698431.1:c.1082-1G>C ENSP00000513717.1:n.1082-1G>C
ENST00000698432.1:c.1154-1G>C
ENST00000698433.1:n.807-1G>C
ENST00000244137.12:c.1345-1G>C MANE Select ENSP00000244137.5:n.1345-1G>C
ENST00000588328.6:c.1400-1G>C
ENST00000651901.1:c.1431-1G>C
ENST00000244137.11:c.1345-1G>C ENSP00000244137.5:n.1345-1G>C
ENST00000397032.8:c.1222-1G>C ENSP00000380226.3:n.1222-1G>C
ENST00000436370.7:c.1153-1G>C ENSP00000391890.2:n.1153-1G>C
ENST00000589598.5:n.70-1G>C
ENST00000591968.1:n.417-1G>C
ENST00000593085.1:n.1232-1G>C
NM_000285.3:c.1345-1G>C NP_000276.2:n.1345-1G>C
NM_001166056.1:c.1222-1G>C NP_001159528.1:n.1222-1G>C
NM_001166057.1:c.1153-1G>C NP_001159529.1:n.1153-1G>C
NM_000285.4:c.1345-1G>C MANE Select NP_000276.2:n.1345-1G>C
NM_001166056.2:c.1222-1G>C NP_001159528.1:n.1222-1G>C
NM_001166057.2:c.1153-1G>C NP_001159529.1:n.1153-1G>C