Canonical Allele Identifier: CA405224206

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892673C>A (hg19) ; chr19:g.33401767C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401767C>A , CM000681.2:g.33401767C>A	GRCh38
NC_000019.9:g.33892673C>A , CM000681.1:g.33892673C>A	GRCh37
NC_000019.8:g.38584513C>A	NCBI36
NG_013358.1:g.125127G>T
NG_013358.2:g.125127G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.921G>T	ENSP00000468516.4:p.Glu307Asp
ENST00000651901.2:c.921G>T	ENSP00000498922.2:p.Glu307Asp
ENST00000698359.1:c.876G>T	ENSP00000513682.1:p.Glu292Asp
ENST00000698360.1:c.972G>T	ENSP00000513683.1:p.Glu324Asp
ENST00000698361.1:c.921G>T	ENSP00000513684.1:p.Glu307Asp
ENST00000698362.1:c.921G>T	ENSP00000513685.1:p.Glu307Asp
ENST00000698363.1:n.984G>T
ENST00000698364.1:n.984G>T
ENST00000698365.1:n.984G>T
ENST00000698426.1:c.600G>T	ENSP00000513713.1:p.Glu200Asp
ENST00000698427.1:c.963G>T	ENSP00000513714.1:p.Glu321Asp
ENST00000698428.1:c.600G>T	ENSP00000513715.1:p.Glu200Asp
ENST00000698429.1:n.804G>T
ENST00000698430.1:c.1171G>T
ENST00000698431.1:c.658G>T	ENSP00000513717.1:n.658G>T
ENST00000698432.1:c.730G>T
ENST00000698433.1:n.383G>T
ENST00000698434.1:n.408G>T
ENST00000244137.12:c.921G>T MANE Select	ENSP00000244137.5:p.Glu307Asp
ENST00000588328.6:c.910G>T
ENST00000590731.6:n.596G>T
ENST00000651901.1:c.917G>T
ENST00000244137.11:c.921G>T	ENSP00000244137.5:p.Glu307Asp
ENST00000397032.8:c.798G>T	ENSP00000380226.3:p.Glu266Asp
ENST00000436370.7:c.729G>T	ENSP00000391890.2:p.Glu243Asp
ENST00000588328.5:c.412G>T
NM_000285.3:c.921G>T	NP_000276.2:p.Glu307Asp
NM_001166056.1:c.798G>T	NP_001159528.1:p.Glu266Asp
NM_001166057.1:c.729G>T	NP_001159529.1:p.Glu243Asp
NM_000285.4:c.921G>T MANE Select	NP_000276.2:p.Glu307Asp
NM_001166056.2:c.798G>T	NP_001159528.1:p.Glu266Asp
NM_001166057.2:c.729G>T	NP_001159529.1:p.Glu243Asp