Canonical Allele Identifier: CA506688234

Gene: PEPD

Linked Data

• gnomAD v4: 19-33401868-G-A
• MyVariant Identifiers: chr19:g.33892774G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401868G>A , CM000681.2:g.33401868G>A	GRCh38
NC_000019.9:g.33892774G>A , CM000681.1:g.33892774G>A	GRCh37
NC_000019.8:g.38584614G>A	NCBI36
NG_013358.1:g.125026C>T
NG_013358.2:g.125026C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.820C>T	ENSP00000468516.4:p.Leu274=
ENST00000651901.2:c.820C>T	ENSP00000498922.2:p.Leu274=
ENST00000698359.1:c.775C>T	ENSP00000513682.1:p.Leu259=
ENST00000698360.1:c.871C>T	ENSP00000513683.1:p.Leu291=
ENST00000698361.1:c.820C>T	ENSP00000513684.1:p.Leu274=
ENST00000698362.1:c.820C>T	ENSP00000513685.1:p.Leu274=
ENST00000698363.1:n.883C>T
ENST00000698364.1:n.883C>T
ENST00000698365.1:n.883C>T
ENST00000698426.1:c.499C>T	ENSP00000513713.1:p.Leu167=
ENST00000698427.1:c.862C>T	ENSP00000513714.1:p.Leu288=
ENST00000698428.1:c.499C>T	ENSP00000513715.1:p.Leu167=
ENST00000698429.1:n.703C>T
ENST00000698430.1:c.1070C>T
ENST00000698431.1:c.557C>T	ENSP00000513717.1:n.557C>T
ENST00000698432.1:c.629C>T
ENST00000698433.1:n.282C>T
ENST00000698434.1:n.307C>T
ENST00000698435.1:c.508C>T	ENSP00000513719.1:p.Leu170=
ENST00000244137.12:c.820C>T MANE Select	ENSP00000244137.5:p.Leu274=
ENST00000588328.6:c.809C>T
ENST00000590731.6:n.495C>T
ENST00000651901.1:c.816C>T
ENST00000244137.11:c.820C>T	ENSP00000244137.5:p.Leu274=
ENST00000397032.8:c.697C>T	ENSP00000380226.3:p.Leu233=
ENST00000436370.7:c.628C>T	ENSP00000391890.2:p.Leu210=
ENST00000588328.5:c.311C>T
ENST00000588719.5:n.455C>T
ENST00000590731.5:n.495C>T
ENST00000593163.5:n.985C>T
ENST00000609145.5:c.253C>T	ENSP00000476514.1:p.Leu85=
NM_000285.3:c.820C>T	NP_000276.2:p.Leu274=
NM_001166056.1:c.697C>T	NP_001159528.1:p.Leu233=
NM_001166057.1:c.628C>T	NP_001159529.1:p.Leu210=
NM_000285.4:c.820C>T MANE Select	NP_000276.2:p.Leu274=
NM_001166056.2:c.697C>T	NP_001159528.1:p.Leu233=
NM_001166057.2:c.628C>T	NP_001159529.1:p.Leu210=