Canonical Allele Identifier: CA405219780

Gene: PEPD

Linked Data

• dbSNP Id: rs1308732090
• gnomAD v2: 19-33878384-G-A
• gnomAD v3: 19-33387478-G-A
• gnomAD v4: 19-33387478-G-A
• MyVariant Identifiers: chr19:g.33878384G>A (hg19) ; chr19:g.33387478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387478G>A , CM000681.2:g.33387478G>A	GRCh38
NC_000019.9:g.33878384G>A , CM000681.1:g.33878384G>A	GRCh37
NC_000019.8:g.38570224G>A	NCBI36
NG_013358.1:g.139416C>T
NG_013358.2:g.139416C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1414C>T	ENSP00000468516.4:p.Arg472Cys
ENST00000651901.2:c.1438C>T	ENSP00000498922.2:p.Arg480Cys
ENST00000698359.1:c.1303C>T	ENSP00000513682.1:p.Arg435Cys
ENST00000698360.1:c.1399C>T	ENSP00000513683.1:p.Arg467Cys
ENST00000698361.1:c.1464C>T	ENSP00000513684.1:p.Ser488=
ENST00000698362.1:c.*485C>T	ENSP00000513685.1:n.*485C>T
ENST00000698426.1:c.1027C>T	ENSP00000513713.1:p.Arg343Cys
ENST00000698427.1:c.1390C>T	ENSP00000513714.1:p.Arg464Cys
ENST00000698428.1:c.1027C>T	ENSP00000513715.1:p.Arg343Cys
ENST00000698429.1:n.1231C>T
ENST00000698430.1:c.1598C>T
ENST00000698431.1:c.1085C>T	ENSP00000513717.1:n.1085C>T
ENST00000698432.1:c.1157C>T
ENST00000698433.1:n.810C>T
ENST00000244137.12:c.1348C>T MANE Select	ENSP00000244137.5:p.Arg450Cys
ENST00000588328.6:c.1403C>T
ENST00000651901.1:c.1434C>T
ENST00000244137.11:c.1348C>T	ENSP00000244137.5:p.Arg450Cys
ENST00000397032.8:c.1225C>T	ENSP00000380226.3:p.Arg409Cys
ENST00000436370.7:c.1156C>T	ENSP00000391890.2:p.Arg386Cys
ENST00000589598.5:n.73C>T
ENST00000591968.1:n.420C>T
ENST00000593085.1:n.1235C>T
NM_000285.3:c.1348C>T	NP_000276.2:p.Arg450Cys
NM_001166056.1:c.1225C>T	NP_001159528.1:p.Arg409Cys
NM_001166057.1:c.1156C>T	NP_001159529.1:p.Arg386Cys
NM_000285.4:c.1348C>T MANE Select	NP_000276.2:p.Arg450Cys
NM_001166056.2:c.1225C>T	NP_001159528.1:p.Arg409Cys
NM_001166057.2:c.1156C>T	NP_001159529.1:p.Arg386Cys