Canonical Allele Identifier: CA9364555

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1299535
• ClinVar RCV Id: RCV001730007
• dbSNP Id: rs764650519
• ExAC: 19:34012665 A / C
• gnomAD v2: 19-34012665-A-C
• gnomAD v4: 19-33521759-A-C
• MyVariant Identifiers: chr19:g.34012665A>C (hg19) ; chr19:g.33521759A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521759A>C , CM000681.2:g.33521759A>C	GRCh38
NC_000019.9:g.34012665A>C , CM000681.1:g.34012665A>C	GRCh37
NC_000019.8:g.38704505A>C	NCBI36
NG_013358.1:g.5135T>G
NG_013358.2:g.5135T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.2T>G	ENSP00000468516.4:p.Met1Arg
ENST00000651646.2:c.2T>G	ENSP00000498950.2:p.Met1Arg
ENST00000651901.2:c.2T>G	ENSP00000498922.2:p.Met1Arg
ENST00000698359.1:c.2T>G	ENSP00000513682.1:p.Met1Arg
ENST00000698360.1:c.2T>G	ENSP00000513683.1:p.Met1Arg
ENST00000698361.1:c.2T>G	ENSP00000513684.1:p.Met1Arg
ENST00000698362.1:c.2T>G	ENSP00000513685.1:p.Met1Arg
ENST00000698363.1:n.65T>G
ENST00000698364.1:n.65T>G
ENST00000698365.1:n.65T>G
ENST00000698426.1:c.-514T>G	ENSP00000513713.1:n.-514T>G
ENST00000698427.1:c.-64T>G	ENSP00000513714.1:n.-64T>G
ENST00000698428.1:c.-392T>G	ENSP00000513715.1:n.-392T>G
ENST00000698435.1:c.2T>G	ENSP00000513719.1:p.Met1Arg
ENST00000698436.1:c.2T>G	ENSP00000513720.1:p.Met1Arg
ENST00000244137.12:c.2T>G MANE Select	ENSP00000244137.5:p.Met1Arg
ENST00000244137.11:c.2T>G	ENSP00000244137.5:p.Met1Arg
ENST00000397032.8:c.2T>G	ENSP00000380226.3:p.Met1Arg
ENST00000436370.7:c.2T>G	ENSP00000391890.2:p.Met1Arg
NM_000285.3:c.2T>G	NP_000276.2:p.Met1Arg
NM_001166056.1:c.2T>G	NP_001159528.1:p.Met1Arg
NM_001166057.1:c.2T>G	NP_001159529.1:p.Met1Arg
NM_000285.4:c.2T>G MANE Select	NP_000276.2:p.Met1Arg
NM_001166056.2:c.2T>G	NP_001159528.1:p.Met1Arg
NM_001166057.2:c.2T>G	NP_001159529.1:p.Met1Arg