Canonical Allele Identifier: CA506687837

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892664C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401758C>T , CM000681.2:g.33401758C>T	GRCh38
NC_000019.9:g.33892664C>T , CM000681.1:g.33892664C>T	GRCh37
NC_000019.8:g.38584504C>T	NCBI36
NG_013358.1:g.125136G>A
NG_013358.2:g.125136G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.930G>A	ENSP00000468516.4:p.Leu310=
ENST00000651901.2:c.930G>A	ENSP00000498922.2:p.Leu310=
ENST00000698359.1:c.885G>A	ENSP00000513682.1:p.Leu295=
ENST00000698360.1:c.981G>A	ENSP00000513683.1:p.Leu327=
ENST00000698361.1:c.930G>A	ENSP00000513684.1:p.Leu310=
ENST00000698362.1:c.930G>A	ENSP00000513685.1:p.Leu310=
ENST00000698363.1:n.993G>A
ENST00000698364.1:n.993G>A
ENST00000698365.1:n.993G>A
ENST00000698426.1:c.609G>A	ENSP00000513713.1:p.Leu203=
ENST00000698427.1:c.972G>A	ENSP00000513714.1:p.Leu324=
ENST00000698428.1:c.609G>A	ENSP00000513715.1:p.Leu203=
ENST00000698429.1:n.813G>A
ENST00000698430.1:c.1180G>A
ENST00000698431.1:c.667G>A	ENSP00000513717.1:n.667G>A
ENST00000698432.1:c.739G>A
ENST00000698433.1:n.392G>A
ENST00000698434.1:n.417G>A
ENST00000244137.12:c.930G>A MANE Select	ENSP00000244137.5:p.Leu310=
ENST00000588328.6:c.919G>A
ENST00000590731.6:n.605G>A
ENST00000651901.1:c.926G>A
ENST00000244137.11:c.930G>A	ENSP00000244137.5:p.Leu310=
ENST00000397032.8:c.807G>A	ENSP00000380226.3:p.Leu269=
ENST00000436370.7:c.738G>A	ENSP00000391890.2:p.Leu246=
ENST00000588328.5:c.421G>A
NM_000285.3:c.930G>A	NP_000276.2:p.Leu310=
NM_001166056.1:c.807G>A	NP_001159528.1:p.Leu269=
NM_001166057.1:c.738G>A	NP_001159529.1:p.Leu246=
NM_000285.4:c.930G>A MANE Select	NP_000276.2:p.Leu310=
NM_001166056.2:c.807G>A	NP_001159528.1:p.Leu269=
NM_001166057.2:c.738G>A	NP_001159529.1:p.Leu246=