Canonical Allele Identifier: CA506687846

Gene: PEPD

Linked Data

• ClinVar Variation Id: 3014369
• ClinVar RCV Id: RCV003876008
• MyVariant Identifiers: chr19:g.33892667C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401761C>T , CM000681.2:g.33401761C>T	GRCh38
NC_000019.9:g.33892667C>T , CM000681.1:g.33892667C>T	GRCh37
NC_000019.8:g.38584507C>T	NCBI36
NG_013358.1:g.125133G>A
NG_013358.2:g.125133G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.927G>A	ENSP00000468516.4:p.Val309=
ENST00000651901.2:c.927G>A	ENSP00000498922.2:p.Val309=
ENST00000698359.1:c.882G>A	ENSP00000513682.1:p.Val294=
ENST00000698360.1:c.978G>A	ENSP00000513683.1:p.Val326=
ENST00000698361.1:c.927G>A	ENSP00000513684.1:p.Val309=
ENST00000698362.1:c.927G>A	ENSP00000513685.1:p.Val309=
ENST00000698363.1:n.990G>A
ENST00000698364.1:n.990G>A
ENST00000698365.1:n.990G>A
ENST00000698426.1:c.606G>A	ENSP00000513713.1:p.Val202=
ENST00000698427.1:c.969G>A	ENSP00000513714.1:p.Val323=
ENST00000698428.1:c.606G>A	ENSP00000513715.1:p.Val202=
ENST00000698429.1:n.810G>A
ENST00000698430.1:c.1177G>A
ENST00000698431.1:c.664G>A	ENSP00000513717.1:n.664G>A
ENST00000698432.1:c.736G>A
ENST00000698433.1:n.389G>A
ENST00000698434.1:n.414G>A
ENST00000244137.12:c.927G>A MANE Select	ENSP00000244137.5:p.Val309=
ENST00000588328.6:c.916G>A
ENST00000590731.6:n.602G>A
ENST00000651901.1:c.923G>A
ENST00000244137.11:c.927G>A	ENSP00000244137.5:p.Val309=
ENST00000397032.8:c.804G>A	ENSP00000380226.3:p.Val268=
ENST00000436370.7:c.735G>A	ENSP00000391890.2:p.Val245=
ENST00000588328.5:c.418G>A
NM_000285.3:c.927G>A	NP_000276.2:p.Val309=
NM_001166056.1:c.804G>A	NP_001159528.1:p.Val268=
NM_001166057.1:c.735G>A	NP_001159529.1:p.Val245=
NM_000285.4:c.927G>A MANE Select	NP_000276.2:p.Val309=
NM_001166056.2:c.804G>A	NP_001159528.1:p.Val268=
NM_001166057.2:c.735G>A	NP_001159529.1:p.Val245=