Canonical Allele Identifier: CA9363883

Gene: PEPD

Linked Data

• dbSNP Id: rs377685056
• ExAC: 19:33878381 T / C
• gnomAD v2: 19-33878381-T-C
• gnomAD v3: 19-33387475-T-C
• gnomAD v4: 19-33387475-T-C
• MyVariant Identifiers: chr19:g.33878381T>C (hg19) ; chr19:g.33387475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387475T>C , CM000681.2:g.33387475T>C	GRCh38
NC_000019.9:g.33878381T>C , CM000681.1:g.33878381T>C	GRCh37
NC_000019.8:g.38570221T>C	NCBI36
NG_013358.1:g.139419A>G
NG_013358.2:g.139419A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1417A>G	ENSP00000468516.4:p.Ile473Val
ENST00000651901.2:c.1441A>G	ENSP00000498922.2:p.Ile481Val
ENST00000698359.1:c.1306A>G	ENSP00000513682.1:p.Ile436Val
ENST00000698360.1:c.1402A>G	ENSP00000513683.1:p.Ile468Val
ENST00000698361.1:c.1467A>G	ENSP00000513684.1:p.Ala489=
ENST00000698362.1:c.*488A>G	ENSP00000513685.1:n.*488A>G
ENST00000698426.1:c.1030A>G	ENSP00000513713.1:p.Ile344Val
ENST00000698427.1:c.1393A>G	ENSP00000513714.1:p.Ile465Val
ENST00000698428.1:c.1030A>G	ENSP00000513715.1:p.Ile344Val
ENST00000698429.1:n.1234A>G
ENST00000698430.1:c.1601A>G
ENST00000698431.1:c.1088A>G	ENSP00000513717.1:n.1088A>G
ENST00000698432.1:c.1160A>G
ENST00000698433.1:n.813A>G
ENST00000244137.12:c.1351A>G MANE Select	ENSP00000244137.5:p.Ile451Val
ENST00000588328.6:c.1406A>G
ENST00000651901.1:c.1437A>G
ENST00000244137.11:c.1351A>G	ENSP00000244137.5:p.Ile451Val
ENST00000397032.8:c.1228A>G	ENSP00000380226.3:p.Ile410Val
ENST00000436370.7:c.1159A>G	ENSP00000391890.2:p.Ile387Val
ENST00000589598.5:n.76A>G
ENST00000591968.1:n.423A>G
ENST00000593085.1:n.1238A>G
NM_000285.3:c.1351A>G	NP_000276.2:p.Ile451Val
NM_001166056.1:c.1228A>G	NP_001159528.1:p.Ile410Val
NM_001166057.1:c.1159A>G	NP_001159529.1:p.Ile387Val
NM_000285.4:c.1351A>G MANE Select	NP_000276.2:p.Ile451Val
NM_001166056.2:c.1228A>G	NP_001159528.1:p.Ile410Val
NM_001166057.2:c.1159A>G	NP_001159529.1:p.Ile387Val