Canonical Allele Identifier: CA9363929

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328790
• ClinVar RCV Id: RCV000276860
• dbSNP Id: rs376372688
• ExAC: 19:33878831 G / A
• gnomAD v2: 19-33878831-G-A
• gnomAD v3: 19-33387925-G-A
• gnomAD v4: 19-33387925-G-A
• COSMIC: COSM710370
• MyVariant Identifiers: chr19:g.33878831G>A (hg19) ; chr19:g.33387925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387925G>A , CM000681.2:g.33387925G>A	GRCh38
NC_000019.9:g.33878831G>A , CM000681.1:g.33878831G>A	GRCh37
NC_000019.8:g.38570671G>A	NCBI36
NG_013358.1:g.138969C>T
NG_013358.2:g.138969C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1375C>T	ENSP00000468516.4:p.Arg459Cys
ENST00000651901.2:c.1309C>T	ENSP00000498922.2:p.Arg437Cys
ENST00000698359.1:c.1264C>T	ENSP00000513682.1:p.Arg422Cys
ENST00000698360.1:c.1360C>T	ENSP00000513683.1:p.Arg454Cys
ENST00000698361.1:c.1425C>T	ENSP00000513684.1:p.Thr475=
ENST00000698362.1:c.*38C>T	ENSP00000513685.1:n.*38C>T
ENST00000698426.1:c.988C>T	ENSP00000513713.1:p.Arg330Cys
ENST00000698427.1:c.1351C>T	ENSP00000513714.1:p.Arg451Cys
ENST00000698428.1:c.988C>T	ENSP00000513715.1:p.Arg330Cys
ENST00000698429.1:n.1192C>T
ENST00000698430.1:c.1559C>T
ENST00000698431.1:c.1046C>T	ENSP00000513717.1:n.1046C>T
ENST00000698432.1:c.1118C>T
ENST00000698433.1:n.771C>T
ENST00000244137.12:c.1309C>T MANE Select	ENSP00000244137.5:p.Arg437Cys
ENST00000588328.6:c.1364C>T
ENST00000651901.1:c.1305C>T
ENST00000244137.11:c.1309C>T	ENSP00000244137.5:p.Arg437Cys
ENST00000397032.8:c.1186C>T	ENSP00000380226.3:p.Arg396Cys
ENST00000436370.7:c.1117C>T	ENSP00000391890.2:p.Arg373Cys
ENST00000591968.1:n.381C>T
ENST00000593085.1:n.1196C>T
NM_000285.3:c.1309C>T	NP_000276.2:p.Arg437Cys
NM_001166056.1:c.1186C>T	NP_001159528.1:p.Arg396Cys
NM_001166057.1:c.1117C>T	NP_001159529.1:p.Arg373Cys
NM_000285.4:c.1309C>T MANE Select	NP_000276.2:p.Arg437Cys
NM_001166056.2:c.1186C>T	NP_001159528.1:p.Arg396Cys
NM_001166057.2:c.1117C>T	NP_001159529.1:p.Arg373Cys