Canonical Allele Identifier: CA405230742

Gene: PEPD

Linked Data

• gnomAD v4: 19-33464016-T-C
• MyVariant Identifiers: chr19:g.33954922T>C (hg19) ; chr19:g.33464016T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464016T>C , CM000681.2:g.33464016T>C	GRCh38
NC_000019.9:g.33954922T>C , CM000681.1:g.33954922T>C	GRCh37
NC_000019.8:g.38646762T>C	NCBI36
NG_013358.1:g.62878A>G
NG_013358.2:g.62878A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.595A>G	ENSP00000468516.4:p.Asn199Asp
ENST00000651646.2:c.595A>G	ENSP00000498950.2:p.Asn199Asp
ENST00000651901.2:c.595A>G	ENSP00000498922.2:p.Asn199Asp
ENST00000698359.1:c.550A>G	ENSP00000513682.1:p.Asn184Asp
ENST00000698360.1:c.595A>G	ENSP00000513683.1:p.Asn199Asp
ENST00000698361.1:c.595A>G	ENSP00000513684.1:p.Asn199Asp
ENST00000698362.1:c.595A>G	ENSP00000513685.1:p.Asn199Asp
ENST00000698363.1:n.658A>G
ENST00000698364.1:n.658A>G
ENST00000698365.1:n.658A>G
ENST00000698426.1:c.274A>G	ENSP00000513713.1:p.Asn92Asp
ENST00000698427.1:c.637A>G	ENSP00000513714.1:p.Asn213Asp
ENST00000698428.1:c.274A>G	ENSP00000513715.1:p.Asn92Asp
ENST00000698430.1:c.845A>G
ENST00000698431.1:c.332A>G	ENSP00000513717.1:n.332A>G
ENST00000698432.1:c.404A>G
ENST00000698435.1:c.283A>G	ENSP00000513719.1:p.Asn95Asp
ENST00000698436.1:c.*207A>G	ENSP00000513720.1:n.*207A>G
ENST00000698437.1:n.578A>G
ENST00000698438.1:n.577A>G
ENST00000698439.1:c.452A>G	ENSP00000513721.1:n.452A>G
ENST00000244137.12:c.595A>G MANE Select	ENSP00000244137.5:p.Asn199Asp
ENST00000588328.6:c.584A>G
ENST00000590731.6:n.270A>G
ENST00000651646.1:c.593A>G
ENST00000651901.1:c.591A>G
ENST00000244137.11:c.595A>G	ENSP00000244137.5:p.Asn199Asp
ENST00000397032.8:c.548+14030A>G	ENSP00000380226.3:n.548+14030A>G
ENST00000436370.7:c.403A>G	ENSP00000391890.2:p.Asn135Asp
ENST00000588328.5:c.86A>G
ENST00000588719.5:n.230A>G
ENST00000590408.1:c.313A>G
ENST00000590731.5:n.270A>G
ENST00000590755.6:c.422A>G	ENSP00000476667.1:n.422A>G
ENST00000593163.5:n.760A>G
ENST00000609145.5:c.28A>G	ENSP00000476514.1:p.Asn10Asp
NM_000285.3:c.595A>G	NP_000276.2:p.Asn199Asp
NM_001166056.1:c.548+14030A>G	NP_001159528.1:n.548+14030A>G
NM_001166057.1:c.403A>G	NP_001159529.1:p.Asn135Asp
NM_000285.4:c.595A>G MANE Select	NP_000276.2:p.Asn199Asp
NM_001166056.2:c.548+14030A>G	NP_001159528.1:n.548+14030A>G
NM_001166057.2:c.403A>G	NP_001159529.1:p.Asn135Asp