Canonical Allele Identifier: CA405224166

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892666G>C (hg19) ; chr19:g.33401760G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401760G>C , CM000681.2:g.33401760G>C	GRCh38
NC_000019.9:g.33892666G>C , CM000681.1:g.33892666G>C	GRCh37
NC_000019.8:g.38584506G>C	NCBI36
NG_013358.1:g.125134C>G
NG_013358.2:g.125134C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.928C>G	ENSP00000468516.4:p.Leu310Val
ENST00000651901.2:c.928C>G	ENSP00000498922.2:p.Leu310Val
ENST00000698359.1:c.883C>G	ENSP00000513682.1:p.Leu295Val
ENST00000698360.1:c.979C>G	ENSP00000513683.1:p.Leu327Val
ENST00000698361.1:c.928C>G	ENSP00000513684.1:p.Leu310Val
ENST00000698362.1:c.928C>G	ENSP00000513685.1:p.Leu310Val
ENST00000698363.1:n.991C>G
ENST00000698364.1:n.991C>G
ENST00000698365.1:n.991C>G
ENST00000698426.1:c.607C>G	ENSP00000513713.1:p.Leu203Val
ENST00000698427.1:c.970C>G	ENSP00000513714.1:p.Leu324Val
ENST00000698428.1:c.607C>G	ENSP00000513715.1:p.Leu203Val
ENST00000698429.1:n.811C>G
ENST00000698430.1:c.1178C>G
ENST00000698431.1:c.665C>G	ENSP00000513717.1:n.665C>G
ENST00000698432.1:c.737C>G
ENST00000698433.1:n.390C>G
ENST00000698434.1:n.415C>G
ENST00000244137.12:c.928C>G MANE Select	ENSP00000244137.5:p.Leu310Val
ENST00000588328.6:c.917C>G
ENST00000590731.6:n.603C>G
ENST00000651901.1:c.924C>G
ENST00000244137.11:c.928C>G	ENSP00000244137.5:p.Leu310Val
ENST00000397032.8:c.805C>G	ENSP00000380226.3:p.Leu269Val
ENST00000436370.7:c.736C>G	ENSP00000391890.2:p.Leu246Val
ENST00000588328.5:c.419C>G
NM_000285.3:c.928C>G	NP_000276.2:p.Leu310Val
NM_001166056.1:c.805C>G	NP_001159528.1:p.Leu269Val
NM_001166057.1:c.736C>G	NP_001159529.1:p.Leu246Val
NM_000285.4:c.928C>G MANE Select	NP_000276.2:p.Leu310Val
NM_001166056.2:c.805C>G	NP_001159528.1:p.Leu269Val
NM_001166057.2:c.736C>G	NP_001159529.1:p.Leu246Val