Canonical Allele Identifier: CA9363921

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328787
• ClinVar RCV Id: RCV000262030 ; RCV002057494
• dbSNP Id: rs2230063
• ExAC: 19:33878811 A / G
• gnomAD v2: 19-33878811-A-G
• gnomAD v3: 19-33387905-A-G
• gnomAD v4: 19-33387905-A-G
• MyVariant Identifiers: chr19:g.33878811A>G (hg19) ; chr19:g.33387905A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387905A>G , CM000681.2:g.33387905A>G	GRCh38
NC_000019.9:g.33878811A>G , CM000681.1:g.33878811A>G	GRCh37
NC_000019.8:g.38570651A>G	NCBI36
NG_013358.1:g.138989T>C
NG_013358.2:g.138989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1395T>C	ENSP00000468516.4:p.Phe465=
ENST00000651901.2:c.1329T>C	ENSP00000498922.2:p.Phe443=
ENST00000698359.1:c.1284T>C	ENSP00000513682.1:p.Phe428=
ENST00000698360.1:c.1380T>C	ENSP00000513683.1:p.Phe460=
ENST00000698361.1:c.1445T>C	ENSP00000513684.1:p.Phe482Ser
ENST00000698362.1:c.*58T>C	ENSP00000513685.1:n.*58T>C
ENST00000698426.1:c.1008T>C	ENSP00000513713.1:p.Phe336=
ENST00000698427.1:c.1371T>C	ENSP00000513714.1:p.Phe457=
ENST00000698428.1:c.1008T>C	ENSP00000513715.1:p.Phe336=
ENST00000698429.1:n.1212T>C
ENST00000698430.1:c.1579T>C
ENST00000698431.1:c.1066T>C	ENSP00000513717.1:n.1066T>C
ENST00000698432.1:c.1138T>C
ENST00000698433.1:n.791T>C
ENST00000244137.12:c.1329T>C MANE Select	ENSP00000244137.5:p.Phe443=
ENST00000588328.6:c.1384T>C
ENST00000651901.1:c.1325T>C
ENST00000244137.11:c.1329T>C	ENSP00000244137.5:p.Phe443=
ENST00000397032.8:c.1206T>C	ENSP00000380226.3:p.Phe402=
ENST00000436370.7:c.1137T>C	ENSP00000391890.2:p.Phe379=
ENST00000591968.1:n.401T>C
ENST00000593085.1:n.1216T>C
NM_000285.3:c.1329T>C	NP_000276.2:p.Phe443=
NM_001166056.1:c.1206T>C	NP_001159528.1:p.Phe402=
NM_001166057.1:c.1137T>C	NP_001159529.1:p.Phe379=
NM_000285.4:c.1329T>C MANE Select	NP_000276.2:p.Phe443=
NM_001166056.2:c.1206T>C	NP_001159528.1:p.Phe402=
NM_001166057.2:c.1137T>C	NP_001159529.1:p.Phe379=