Canonical Allele Identifier: CA506687871
Gene: PEPD HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.33892673C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33401767C>T , CM000681.2:g.33401767C>T GRCh38
NC_000019.9:g.33892673C>T , CM000681.1:g.33892673C>T GRCh37
NC_000019.8:g.38584513C>T NCBI36
NG_013358.1:g.125127G>A
NG_013358.2:g.125127G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000588328.7:c.921G>A ENSP00000468516.4:p.Glu307=
ENST00000651901.2:c.921G>A ENSP00000498922.2:p.Glu307=
ENST00000698359.1:c.876G>A ENSP00000513682.1:p.Glu292=
ENST00000698360.1:c.972G>A ENSP00000513683.1:p.Glu324=
ENST00000698361.1:c.921G>A ENSP00000513684.1:p.Glu307=
ENST00000698362.1:c.921G>A ENSP00000513685.1:p.Glu307=
ENST00000698363.1:n.984G>A
ENST00000698364.1:n.984G>A
ENST00000698365.1:n.984G>A
ENST00000698426.1:c.600G>A ENSP00000513713.1:p.Glu200=
ENST00000698427.1:c.963G>A ENSP00000513714.1:p.Glu321=
ENST00000698428.1:c.600G>A ENSP00000513715.1:p.Glu200=
ENST00000698429.1:n.804G>A
ENST00000698430.1:c.1171G>A
ENST00000698431.1:c.658G>A ENSP00000513717.1:n.658G>A
ENST00000698432.1:c.730G>A
ENST00000698433.1:n.383G>A
ENST00000698434.1:n.408G>A
ENST00000244137.12:c.921G>A MANE Select ENSP00000244137.5:p.Glu307=
ENST00000588328.6:c.910G>A
ENST00000590731.6:n.596G>A
ENST00000651901.1:c.917G>A
ENST00000244137.11:c.921G>A ENSP00000244137.5:p.Glu307=
ENST00000397032.8:c.798G>A ENSP00000380226.3:p.Glu266=
ENST00000436370.7:c.729G>A ENSP00000391890.2:p.Glu243=
ENST00000588328.5:c.412G>A
NM_000285.3:c.921G>A NP_000276.2:p.Glu307=
NM_001166056.1:c.798G>A NP_001159528.1:p.Glu266=
NM_001166057.1:c.729G>A NP_001159529.1:p.Glu243=
NM_000285.4:c.921G>A MANE Select NP_000276.2:p.Glu307=
NM_001166056.2:c.798G>A NP_001159528.1:p.Glu266=
NM_001166057.2:c.729G>A NP_001159529.1:p.Glu243=