Canonical Allele Identifier: CA9364102

Gene: PEPD

Linked Data

• dbSNP Id: rs374795227
• ExAC: 19:33892765 T / A
• gnomAD v2: 19-33892765-T-A
• gnomAD v3: 19-33401859-T-A
• gnomAD v4: 19-33401859-T-A
• MyVariant Identifiers: chr19:g.33892765T>A (hg19) ; chr19:g.33401859T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401859T>A , CM000681.2:g.33401859T>A	GRCh38
NC_000019.9:g.33892765T>A , CM000681.1:g.33892765T>A	GRCh37
NC_000019.8:g.38584605T>A	NCBI36
NG_013358.1:g.125035A>T
NG_013358.2:g.125035A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.829A>T	ENSP00000468516.4:p.Met277Leu
ENST00000651901.2:c.829A>T	ENSP00000498922.2:p.Met277Leu
ENST00000698359.1:c.784A>T	ENSP00000513682.1:p.Met262Leu
ENST00000698360.1:c.880A>T	ENSP00000513683.1:p.Met294Leu
ENST00000698361.1:c.829A>T	ENSP00000513684.1:p.Met277Leu
ENST00000698362.1:c.829A>T	ENSP00000513685.1:p.Met277Leu
ENST00000698363.1:n.892A>T
ENST00000698364.1:n.892A>T
ENST00000698365.1:n.892A>T
ENST00000698426.1:c.508A>T	ENSP00000513713.1:p.Met170Leu
ENST00000698427.1:c.871A>T	ENSP00000513714.1:p.Met291Leu
ENST00000698428.1:c.508A>T	ENSP00000513715.1:p.Met170Leu
ENST00000698429.1:n.712A>T
ENST00000698430.1:c.1079A>T
ENST00000698431.1:c.566A>T	ENSP00000513717.1:n.566A>T
ENST00000698432.1:c.638A>T
ENST00000698433.1:n.291A>T
ENST00000698434.1:n.316A>T
ENST00000698435.1:c.517A>T	ENSP00000513719.1:p.Met173Leu
ENST00000244137.12:c.829A>T MANE Select	ENSP00000244137.5:p.Met277Leu
ENST00000588328.6:c.818A>T
ENST00000590731.6:n.504A>T
ENST00000651901.1:c.825A>T
ENST00000244137.11:c.829A>T	ENSP00000244137.5:p.Met277Leu
ENST00000397032.8:c.706A>T	ENSP00000380226.3:p.Met236Leu
ENST00000436370.7:c.637A>T	ENSP00000391890.2:p.Met213Leu
ENST00000588328.5:c.320A>T
ENST00000588719.5:n.464A>T
ENST00000590731.5:n.504A>T
ENST00000593163.5:n.994A>T
ENST00000609145.5:c.262A>T	ENSP00000476514.1:p.Met88Leu
NM_000285.3:c.829A>T	NP_000276.2:p.Met277Leu
NM_001166056.1:c.706A>T	NP_001159528.1:p.Met236Leu
NM_001166057.1:c.637A>T	NP_001159529.1:p.Met213Leu
NM_000285.4:c.829A>T MANE Select	NP_000276.2:p.Met277Leu
NM_001166056.2:c.706A>T	NP_001159528.1:p.Met236Leu
NM_001166057.2:c.637A>T	NP_001159529.1:p.Met213Leu