Canonical Allele Identifier: CA405224204

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892672C>A (hg19) ; chr19:g.33401766C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401766C>A , CM000681.2:g.33401766C>A	GRCh38
NC_000019.9:g.33892672C>A , CM000681.1:g.33892672C>A	GRCh37
NC_000019.8:g.38584512C>A	NCBI36
NG_013358.1:g.125128G>T
NG_013358.2:g.125128G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.922G>T	ENSP00000468516.4:p.Ala308Ser
ENST00000651901.2:c.922G>T	ENSP00000498922.2:p.Ala308Ser
ENST00000698359.1:c.877G>T	ENSP00000513682.1:p.Ala293Ser
ENST00000698360.1:c.973G>T	ENSP00000513683.1:p.Ala325Ser
ENST00000698361.1:c.922G>T	ENSP00000513684.1:p.Ala308Ser
ENST00000698362.1:c.922G>T	ENSP00000513685.1:p.Ala308Ser
ENST00000698363.1:n.985G>T
ENST00000698364.1:n.985G>T
ENST00000698365.1:n.985G>T
ENST00000698426.1:c.601G>T	ENSP00000513713.1:p.Ala201Ser
ENST00000698427.1:c.964G>T	ENSP00000513714.1:p.Ala322Ser
ENST00000698428.1:c.601G>T	ENSP00000513715.1:p.Ala201Ser
ENST00000698429.1:n.805G>T
ENST00000698430.1:c.1172G>T
ENST00000698431.1:c.659G>T	ENSP00000513717.1:n.659G>T
ENST00000698432.1:c.731G>T
ENST00000698433.1:n.384G>T
ENST00000698434.1:n.409G>T
ENST00000244137.12:c.922G>T MANE Select	ENSP00000244137.5:p.Ala308Ser
ENST00000588328.6:c.911G>T
ENST00000590731.6:n.597G>T
ENST00000651901.1:c.918G>T
ENST00000244137.11:c.922G>T	ENSP00000244137.5:p.Ala308Ser
ENST00000397032.8:c.799G>T	ENSP00000380226.3:p.Ala267Ser
ENST00000436370.7:c.730G>T	ENSP00000391890.2:p.Ala244Ser
ENST00000588328.5:c.413G>T
NM_000285.3:c.922G>T	NP_000276.2:p.Ala308Ser
NM_001166056.1:c.799G>T	NP_001159528.1:p.Ala267Ser
NM_001166057.1:c.730G>T	NP_001159529.1:p.Ala244Ser
NM_000285.4:c.922G>T MANE Select	NP_000276.2:p.Ala308Ser
NM_001166056.2:c.799G>T	NP_001159528.1:p.Ala267Ser
NM_001166057.2:c.730G>T	NP_001159529.1:p.Ala244Ser