Canonical Allele Identifier: CA9363881

Gene: PEPD

Linked Data

• ClinVar Variation Id: 2154006
• ClinVar RCV Id: RCV003069055
• dbSNP Id: rs766389659
• ExAC: 19:33878373 C / G
• gnomAD v2: 19-33878373-C-G
• gnomAD v3: 19-33387467-C-G
• gnomAD v4: 19-33387467-C-G
• COSMIC: COSM4630450
• MyVariant Identifiers: chr19:g.33878373C>G (hg19) ; chr19:g.33387467C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387467C>G , CM000681.2:g.33387467C>G	GRCh38
NC_000019.9:g.33878373C>G , CM000681.1:g.33878373C>G	GRCh37
NC_000019.8:g.38570213C>G	NCBI36
NG_013358.1:g.139427G>C
NG_013358.2:g.139427G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1425G>C	ENSP00000468516.4:p.Glu475Asp
ENST00000651901.2:c.1449G>C	ENSP00000498922.2:p.Glu483Asp
ENST00000698359.1:c.1314G>C	ENSP00000513682.1:p.Glu438Asp
ENST00000698360.1:c.1410G>C	ENSP00000513683.1:p.Glu470Asp
ENST00000698361.1:c.1475G>C	ENSP00000513684.1:p.Arg492Thr
ENST00000698362.1:c.*496G>C	ENSP00000513685.1:n.*496G>C
ENST00000698426.1:c.1038G>C	ENSP00000513713.1:p.Glu346Asp
ENST00000698427.1:c.1401G>C	ENSP00000513714.1:p.Glu467Asp
ENST00000698428.1:c.1038G>C	ENSP00000513715.1:p.Glu346Asp
ENST00000698429.1:n.1242G>C
ENST00000698430.1:c.1609G>C
ENST00000698431.1:c.1096G>C	ENSP00000513717.1:n.1096G>C
ENST00000698432.1:c.1168G>C
ENST00000698433.1:n.821G>C
ENST00000244137.12:c.1359G>C MANE Select	ENSP00000244137.5:p.Glu453Asp
ENST00000588328.6:c.1414G>C
ENST00000651901.1:c.1445G>C
ENST00000244137.11:c.1359G>C	ENSP00000244137.5:p.Glu453Asp
ENST00000397032.8:c.1236G>C	ENSP00000380226.3:p.Glu412Asp
ENST00000436370.7:c.1167G>C	ENSP00000391890.2:p.Glu389Asp
ENST00000589598.5:n.84G>C
ENST00000591968.1:n.431G>C
ENST00000593085.1:n.1246G>C
NM_000285.3:c.1359G>C	NP_000276.2:p.Glu453Asp
NM_001166056.1:c.1236G>C	NP_001159528.1:p.Glu412Asp
NM_001166057.1:c.1167G>C	NP_001159529.1:p.Glu389Asp
NM_000285.4:c.1359G>C MANE Select	NP_000276.2:p.Glu453Asp
NM_001166056.2:c.1236G>C	NP_001159528.1:p.Glu412Asp
NM_001166057.2:c.1167G>C	NP_001159529.1:p.Glu389Asp