Canonical Allele Identifier: CA9363856

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1356741
• ClinVar RCV Id: RCV001876794
• dbSNP Id: rs774917395
• ExAC: 19:33878297 T / C
• gnomAD v2: 19-33878297-T-C
• gnomAD v3: 19-33387391-T-C
• gnomAD v4: 19-33387391-T-C
• MyVariant Identifiers: chr19:g.33878297T>C (hg19) ; chr19:g.33387391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387391T>C , CM000681.2:g.33387391T>C	GRCh38
NC_000019.9:g.33878297T>C , CM000681.1:g.33878297T>C	GRCh37
NC_000019.8:g.38570137T>C	NCBI36
NG_013358.1:g.139503A>G
NG_013358.2:g.139503A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1501A>G	ENSP00000468516.4:p.Met501Val
ENST00000651901.2:c.1525A>G	ENSP00000498922.2:p.Met509Val
ENST00000698359.1:c.1390A>G	ENSP00000513682.1:p.Met464Val
ENST00000698360.1:c.1486A>G	ENSP00000513683.1:p.Met496Val
ENST00000698361.1:c.*63A>G	ENSP00000513684.1:n.*63A>G
ENST00000698362.1:c.*572A>G	ENSP00000513685.1:n.*572A>G
ENST00000698426.1:c.1114A>G	ENSP00000513713.1:p.Met372Val
ENST00000698427.1:c.1477A>G	ENSP00000513714.1:p.Met493Val
ENST00000698428.1:c.1114A>G	ENSP00000513715.1:p.Met372Val
ENST00000698429.1:n.1318A>G
ENST00000698430.1:c.1685A>G
ENST00000698431.1:c.1172A>G	ENSP00000513717.1:n.1172A>G
ENST00000698432.1:c.1244A>G
ENST00000698433.1:n.897A>G
ENST00000244137.12:c.1435A>G MANE Select	ENSP00000244137.5:p.Met479Val
ENST00000588328.6:c.1490A>G
ENST00000651901.1:c.1521A>G
ENST00000244137.11:c.1435A>G	ENSP00000244137.5:p.Met479Val
ENST00000397032.8:c.1312A>G	ENSP00000380226.3:p.Met438Val
ENST00000436370.7:c.1243A>G	ENSP00000391890.2:p.Met415Val
ENST00000589598.5:n.160A>G
ENST00000591968.1:n.507A>G
ENST00000593085.1:n.1322A>G
NM_000285.3:c.1435A>G	NP_000276.2:p.Met479Val
NM_001166056.1:c.1312A>G	NP_001159528.1:p.Met438Val
NM_001166057.1:c.1243A>G	NP_001159529.1:p.Met415Val
NM_000285.4:c.1435A>G MANE Select	NP_000276.2:p.Met479Val
NM_001166056.2:c.1312A>G	NP_001159528.1:p.Met438Val
NM_001166057.2:c.1243A>G	NP_001159529.1:p.Met415Val