Canonical Allele Identifier: CA9363889

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328786
• ClinVar RCV Id: RCV000356743 ; RCV002057493
• dbSNP Id: rs374919986
• ExAC: 19:33878398 C / G
• gnomAD v2: 19-33878398-C-G
• gnomAD v3: 19-33387492-C-G
• gnomAD v4: 19-33387492-C-G
• MyVariant Identifiers: chr19:g.33878398C>G (hg19) ; chr19:g.33387492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387492C>G , CM000681.2:g.33387492C>G	GRCh38
NC_000019.9:g.33878398C>G , CM000681.1:g.33878398C>G	GRCh37
NC_000019.8:g.38570238C>G	NCBI36
NG_013358.1:g.139402G>C
NG_013358.2:g.139402G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1411-11G>C	ENSP00000468516.4:n.1411-11G>C
ENST00000651901.2:c.1435-11G>C	ENSP00000498922.2:n.1435-11G>C
ENST00000698359.1:c.1300-11G>C	ENSP00000513682.1:n.1300-11G>C
ENST00000698360.1:c.1396-11G>C	ENSP00000513683.1:n.1396-11G>C
ENST00000698361.1:c.1461-11G>C	ENSP00000513684.1:n.1461-11G>C
ENST00000698362.1:c.*471G>C	ENSP00000513685.1:n.*471G>C
ENST00000698426.1:c.1024-11G>C	ENSP00000513713.1:n.1024-11G>C
ENST00000698427.1:c.1387-11G>C	ENSP00000513714.1:n.1387-11G>C
ENST00000698428.1:c.1024-11G>C	ENSP00000513715.1:n.1024-11G>C
ENST00000698429.1:n.1228-11G>C
ENST00000698430.1:c.1595-11G>C
ENST00000698431.1:c.1082-11G>C	ENSP00000513717.1:n.1082-11G>C
ENST00000698432.1:c.1154-11G>C
ENST00000698433.1:n.807-11G>C
ENST00000244137.12:c.1345-11G>C MANE Select	ENSP00000244137.5:n.1345-11G>C
ENST00000588328.6:c.1400-11G>C
ENST00000651901.1:c.1431-11G>C
ENST00000244137.11:c.1345-11G>C	ENSP00000244137.5:n.1345-11G>C
ENST00000397032.8:c.1222-11G>C	ENSP00000380226.3:n.1222-11G>C
ENST00000436370.7:c.1153-11G>C	ENSP00000391890.2:n.1153-11G>C
ENST00000589598.5:n.70-11G>C
ENST00000591968.1:n.417-11G>C
ENST00000593085.1:n.1232-11G>C
NM_000285.3:c.1345-11G>C	NP_000276.2:n.1345-11G>C
NM_001166056.1:c.1222-11G>C	NP_001159528.1:n.1222-11G>C
NM_001166057.1:c.1153-11G>C	NP_001159529.1:n.1153-11G>C
NM_000285.4:c.1345-11G>C MANE Select	NP_000276.2:n.1345-11G>C
NM_001166056.2:c.1222-11G>C	NP_001159528.1:n.1222-11G>C
NM_001166057.2:c.1153-11G>C	NP_001159529.1:n.1153-11G>C