Canonical Allele Identifier: CA9363871

Gene: PEPD

Linked Data

• dbSNP Id: rs781482255
• ExAC: 19:33878352 G / A
• gnomAD v2: 19-33878352-G-A
• gnomAD v3: 19-33387446-G-A
• gnomAD v4: 19-33387446-G-A
• COSMIC: COSM4437207
• MyVariant Identifiers: chr19:g.33878352G>A (hg19) ; chr19:g.33387446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387446G>A , CM000681.2:g.33387446G>A	GRCh38
NC_000019.9:g.33878352G>A , CM000681.1:g.33878352G>A	GRCh37
NC_000019.8:g.38570192G>A	NCBI36
NG_013358.1:g.139448C>T
NG_013358.2:g.139448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1446C>T	ENSP00000468516.4:p.Ser482=
ENST00000651901.2:c.1470C>T	ENSP00000498922.2:p.Ser490=
ENST00000698359.1:c.1335C>T	ENSP00000513682.1:p.Ser445=
ENST00000698360.1:c.1431C>T	ENSP00000513683.1:p.Ser477=
ENST00000698361.1:c.*8C>T	ENSP00000513684.1:n.*8C>T
ENST00000698362.1:c.*517C>T	ENSP00000513685.1:n.*517C>T
ENST00000698426.1:c.1059C>T	ENSP00000513713.1:p.Ser353=
ENST00000698427.1:c.1422C>T	ENSP00000513714.1:p.Ser474=
ENST00000698428.1:c.1059C>T	ENSP00000513715.1:p.Ser353=
ENST00000698429.1:n.1263C>T
ENST00000698430.1:c.1630C>T
ENST00000698431.1:c.1117C>T	ENSP00000513717.1:n.1117C>T
ENST00000698432.1:c.1189C>T
ENST00000698433.1:n.842C>T
ENST00000244137.12:c.1380C>T MANE Select	ENSP00000244137.5:p.Ser460=
ENST00000588328.6:c.1435C>T
ENST00000651901.1:c.1466C>T
ENST00000244137.11:c.1380C>T	ENSP00000244137.5:p.Ser460=
ENST00000397032.8:c.1257C>T	ENSP00000380226.3:p.Ser419=
ENST00000436370.7:c.1188C>T	ENSP00000391890.2:p.Ser396=
ENST00000589598.5:n.105C>T
ENST00000591968.1:n.452C>T
ENST00000593085.1:n.1267C>T
NM_000285.3:c.1380C>T	NP_000276.2:p.Ser460=
NM_001166056.1:c.1257C>T	NP_001159528.1:p.Ser419=
NM_001166057.1:c.1188C>T	NP_001159529.1:p.Ser396=
NM_000285.4:c.1380C>T MANE Select	NP_000276.2:p.Ser460=
NM_001166056.2:c.1257C>T	NP_001159528.1:p.Ser419=
NM_001166057.2:c.1188C>T	NP_001159529.1:p.Ser396=