Canonical Allele Identifier: CA9364068

Gene: PEPD

Linked Data

• dbSNP Id: rs759869782
• ExAC: 19:33892633 T / C
• gnomAD v2: 19-33892633-T-C
• gnomAD v4: 19-33401727-T-C
• MyVariant Identifiers: chr19:g.33892633T>C (hg19) ; chr19:g.33401727T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401727T>C , CM000681.2:g.33401727T>C	GRCh38
NC_000019.9:g.33892633T>C , CM000681.1:g.33892633T>C	GRCh37
NC_000019.8:g.38584473T>C	NCBI36
NG_013358.1:g.125167A>G
NG_013358.2:g.125167A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.961A>G	ENSP00000468516.4:p.Lys321Glu
ENST00000651901.2:c.961A>G	ENSP00000498922.2:p.Lys321Glu
ENST00000698359.1:c.916A>G	ENSP00000513682.1:p.Lys306Glu
ENST00000698360.1:c.1012A>G	ENSP00000513683.1:p.Lys338Glu
ENST00000698361.1:c.961A>G	ENSP00000513684.1:p.Lys321Glu
ENST00000698362.1:c.961A>G	ENSP00000513685.1:p.Lys321Glu
ENST00000698363.1:n.1024A>G
ENST00000698364.1:n.1024A>G
ENST00000698365.1:n.1024A>G
ENST00000698426.1:c.640A>G	ENSP00000513713.1:p.Lys214Glu
ENST00000698427.1:c.1003A>G	ENSP00000513714.1:p.Lys335Glu
ENST00000698428.1:c.640A>G	ENSP00000513715.1:p.Lys214Glu
ENST00000698429.1:n.844A>G
ENST00000698430.1:c.1211A>G
ENST00000698431.1:c.698A>G	ENSP00000513717.1:n.698A>G
ENST00000698432.1:c.770A>G
ENST00000698433.1:n.423A>G
ENST00000698434.1:n.448A>G
ENST00000244137.12:c.961A>G MANE Select	ENSP00000244137.5:p.Lys321Glu
ENST00000588328.6:c.950A>G
ENST00000590731.6:n.636A>G
ENST00000651901.1:c.957A>G
ENST00000244137.11:c.961A>G	ENSP00000244137.5:p.Lys321Glu
ENST00000397032.8:c.838A>G	ENSP00000380226.3:p.Lys280Glu
ENST00000436370.7:c.769A>G	ENSP00000391890.2:p.Lys257Glu
ENST00000588328.5:c.452A>G
NM_000285.3:c.961A>G	NP_000276.2:p.Lys321Glu
NM_001166056.1:c.838A>G	NP_001159528.1:p.Lys280Glu
NM_001166057.1:c.769A>G	NP_001159529.1:p.Lys257Glu
NM_000285.4:c.961A>G MANE Select	NP_000276.2:p.Lys321Glu
NM_001166056.2:c.838A>G	NP_001159528.1:p.Lys280Glu
NM_001166057.2:c.769A>G	NP_001159529.1:p.Lys257Glu