Canonical Allele Identifier: CA9363880

Gene: PEPD

Linked Data

• dbSNP Id: rs773348990
• ExAC: 19:33878371 T / A
• gnomAD v2: 19-33878371-T-A
• gnomAD v3: 19-33387465-T-A
• gnomAD v4: 19-33387465-T-A
• MyVariant Identifiers: chr19:g.33878371T>A (hg19) ; chr19:g.33387465T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387465T>A , CM000681.2:g.33387465T>A	GRCh38
NC_000019.9:g.33878371T>A , CM000681.1:g.33878371T>A	GRCh37
NC_000019.8:g.38570211T>A	NCBI36
NG_013358.1:g.139429A>T
NG_013358.2:g.139429A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1427A>T	ENSP00000468516.4:p.Asp476Val
ENST00000651901.2:c.1451A>T	ENSP00000498922.2:p.Asp484Val
ENST00000698359.1:c.1316A>T	ENSP00000513682.1:p.Asp439Val
ENST00000698360.1:c.1412A>T	ENSP00000513683.1:p.Asp471Val
ENST00000698361.1:c.1477A>T	ENSP00000513684.1:p.Thr493Ser
ENST00000698362.1:c.*498A>T	ENSP00000513685.1:n.*498A>T
ENST00000698426.1:c.1040A>T	ENSP00000513713.1:p.Asp347Val
ENST00000698427.1:c.1403A>T	ENSP00000513714.1:p.Asp468Val
ENST00000698428.1:c.1040A>T	ENSP00000513715.1:p.Asp347Val
ENST00000698429.1:n.1244A>T
ENST00000698430.1:c.1611A>T
ENST00000698431.1:c.1098A>T	ENSP00000513717.1:n.1098A>T
ENST00000698432.1:c.1170A>T
ENST00000698433.1:n.823A>T
ENST00000244137.12:c.1361A>T MANE Select	ENSP00000244137.5:p.Asp454Val
ENST00000588328.6:c.1416A>T
ENST00000651901.1:c.1447A>T
ENST00000244137.11:c.1361A>T	ENSP00000244137.5:p.Asp454Val
ENST00000397032.8:c.1238A>T	ENSP00000380226.3:p.Asp413Val
ENST00000436370.7:c.1169A>T	ENSP00000391890.2:p.Asp390Val
ENST00000589598.5:n.86A>T
ENST00000591968.1:n.433A>T
ENST00000593085.1:n.1248A>T
NM_000285.3:c.1361A>T	NP_000276.2:p.Asp454Val
NM_001166056.1:c.1238A>T	NP_001159528.1:p.Asp413Val
NM_001166057.1:c.1169A>T	NP_001159529.1:p.Asp390Val
NM_000285.4:c.1361A>T MANE Select	NP_000276.2:p.Asp454Val
NM_001166056.2:c.1238A>T	NP_001159528.1:p.Asp413Val
NM_001166057.2:c.1169A>T	NP_001159529.1:p.Asp390Val