Canonical Allele Identifier: CA405224172

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892668A>G (hg19) ; chr19:g.33401762A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401762A>G , CM000681.2:g.33401762A>G	GRCh38
NC_000019.9:g.33892668A>G , CM000681.1:g.33892668A>G	GRCh37
NC_000019.8:g.38584508A>G	NCBI36
NG_013358.1:g.125132T>C
NG_013358.2:g.125132T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.926T>C	ENSP00000468516.4:p.Val309Ala
ENST00000651901.2:c.926T>C	ENSP00000498922.2:p.Val309Ala
ENST00000698359.1:c.881T>C	ENSP00000513682.1:p.Val294Ala
ENST00000698360.1:c.977T>C	ENSP00000513683.1:p.Val326Ala
ENST00000698361.1:c.926T>C	ENSP00000513684.1:p.Val309Ala
ENST00000698362.1:c.926T>C	ENSP00000513685.1:p.Val309Ala
ENST00000698363.1:n.989T>C
ENST00000698364.1:n.989T>C
ENST00000698365.1:n.989T>C
ENST00000698426.1:c.605T>C	ENSP00000513713.1:p.Val202Ala
ENST00000698427.1:c.968T>C	ENSP00000513714.1:p.Val323Ala
ENST00000698428.1:c.605T>C	ENSP00000513715.1:p.Val202Ala
ENST00000698429.1:n.809T>C
ENST00000698430.1:c.1176T>C
ENST00000698431.1:c.663T>C	ENSP00000513717.1:n.663T>C
ENST00000698432.1:c.735T>C
ENST00000698433.1:n.388T>C
ENST00000698434.1:n.413T>C
ENST00000244137.12:c.926T>C MANE Select	ENSP00000244137.5:p.Val309Ala
ENST00000588328.6:c.915T>C
ENST00000590731.6:n.601T>C
ENST00000651901.1:c.922T>C
ENST00000244137.11:c.926T>C	ENSP00000244137.5:p.Val309Ala
ENST00000397032.8:c.803T>C	ENSP00000380226.3:p.Val268Ala
ENST00000436370.7:c.734T>C	ENSP00000391890.2:p.Val245Ala
ENST00000588328.5:c.417T>C
NM_000285.3:c.926T>C	NP_000276.2:p.Val309Ala
NM_001166056.1:c.803T>C	NP_001159528.1:p.Val268Ala
NM_001166057.1:c.734T>C	NP_001159529.1:p.Val245Ala
NM_000285.4:c.926T>C MANE Select	NP_000276.2:p.Val309Ala
NM_001166056.2:c.803T>C	NP_001159528.1:p.Val268Ala
NM_001166057.2:c.734T>C	NP_001159529.1:p.Val245Ala