Canonical Allele Identifier: CA405224185

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892669C>G (hg19) ; chr19:g.33401763C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401763C>G , CM000681.2:g.33401763C>G	GRCh38
NC_000019.9:g.33892669C>G , CM000681.1:g.33892669C>G	GRCh37
NC_000019.8:g.38584509C>G	NCBI36
NG_013358.1:g.125131G>C
NG_013358.2:g.125131G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.925G>C	ENSP00000468516.4:p.Val309Leu
ENST00000651901.2:c.925G>C	ENSP00000498922.2:p.Val309Leu
ENST00000698359.1:c.880G>C	ENSP00000513682.1:p.Val294Leu
ENST00000698360.1:c.976G>C	ENSP00000513683.1:p.Val326Leu
ENST00000698361.1:c.925G>C	ENSP00000513684.1:p.Val309Leu
ENST00000698362.1:c.925G>C	ENSP00000513685.1:p.Val309Leu
ENST00000698363.1:n.988G>C
ENST00000698364.1:n.988G>C
ENST00000698365.1:n.988G>C
ENST00000698426.1:c.604G>C	ENSP00000513713.1:p.Val202Leu
ENST00000698427.1:c.967G>C	ENSP00000513714.1:p.Val323Leu
ENST00000698428.1:c.604G>C	ENSP00000513715.1:p.Val202Leu
ENST00000698429.1:n.808G>C
ENST00000698430.1:c.1175G>C
ENST00000698431.1:c.662G>C	ENSP00000513717.1:n.662G>C
ENST00000698432.1:c.734G>C
ENST00000698433.1:n.387G>C
ENST00000698434.1:n.412G>C
ENST00000244137.12:c.925G>C MANE Select	ENSP00000244137.5:p.Val309Leu
ENST00000588328.6:c.914G>C
ENST00000590731.6:n.600G>C
ENST00000651901.1:c.921G>C
ENST00000244137.11:c.925G>C	ENSP00000244137.5:p.Val309Leu
ENST00000397032.8:c.802G>C	ENSP00000380226.3:p.Val268Leu
ENST00000436370.7:c.733G>C	ENSP00000391890.2:p.Val245Leu
ENST00000588328.5:c.416G>C
NM_000285.3:c.925G>C	NP_000276.2:p.Val309Leu
NM_001166056.1:c.802G>C	NP_001159528.1:p.Val268Leu
NM_001166057.1:c.733G>C	NP_001159529.1:p.Val245Leu
NM_000285.4:c.925G>C MANE Select	NP_000276.2:p.Val309Leu
NM_001166056.2:c.802G>C	NP_001159528.1:p.Val268Leu
NM_001166057.2:c.733G>C	NP_001159529.1:p.Val245Leu