Canonical Allele Identifier: CA506688226
Gene: PEPD HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.33892772C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33401866C>G , CM000681.2:g.33401866C>G GRCh38
NC_000019.9:g.33892772C>G , CM000681.1:g.33892772C>G GRCh37
NC_000019.8:g.38584612C>G NCBI36
NG_013358.1:g.125028G>C
NG_013358.2:g.125028G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000588328.7:c.822G>C ENSP00000468516.4:p.Leu274=
ENST00000651901.2:c.822G>C ENSP00000498922.2:p.Leu274=
ENST00000698359.1:c.777G>C ENSP00000513682.1:p.Leu259=
ENST00000698360.1:c.873G>C ENSP00000513683.1:p.Leu291=
ENST00000698361.1:c.822G>C ENSP00000513684.1:p.Leu274=
ENST00000698362.1:c.822G>C ENSP00000513685.1:p.Leu274=
ENST00000698363.1:n.885G>C
ENST00000698364.1:n.885G>C
ENST00000698365.1:n.885G>C
ENST00000698426.1:c.501G>C ENSP00000513713.1:p.Leu167=
ENST00000698427.1:c.864G>C ENSP00000513714.1:p.Leu288=
ENST00000698428.1:c.501G>C ENSP00000513715.1:p.Leu167=
ENST00000698429.1:n.705G>C
ENST00000698430.1:c.1072G>C
ENST00000698431.1:c.559G>C ENSP00000513717.1:n.559G>C
ENST00000698432.1:c.631G>C
ENST00000698433.1:n.284G>C
ENST00000698434.1:n.309G>C
ENST00000698435.1:c.510G>C ENSP00000513719.1:p.Leu170=
ENST00000244137.12:c.822G>C MANE Select ENSP00000244137.5:p.Leu274=
ENST00000588328.6:c.811G>C
ENST00000590731.6:n.497G>C
ENST00000651901.1:c.818G>C
ENST00000244137.11:c.822G>C ENSP00000244137.5:p.Leu274=
ENST00000397032.8:c.699G>C ENSP00000380226.3:p.Leu233=
ENST00000436370.7:c.630G>C ENSP00000391890.2:p.Leu210=
ENST00000588328.5:c.313G>C
ENST00000588719.5:n.457G>C
ENST00000590731.5:n.497G>C
ENST00000593163.5:n.987G>C
ENST00000609145.5:c.255G>C ENSP00000476514.1:p.Leu85=
NM_000285.3:c.822G>C NP_000276.2:p.Leu274=
NM_001166056.1:c.699G>C NP_001159528.1:p.Leu233=
NM_001166057.1:c.630G>C NP_001159529.1:p.Leu210=
NM_000285.4:c.822G>C MANE Select NP_000276.2:p.Leu274=
NM_001166056.2:c.699G>C NP_001159528.1:p.Leu233=
NM_001166057.2:c.630G>C NP_001159529.1:p.Leu210=