Canonical Allele Identifier: CA405230739

Gene: PEPD

Linked Data

• ClinVar Variation Id: 2101667
• ClinVar RCV Id: RCV003026188
• gnomAD v4: 19-33464015-T-A
• MyVariant Identifiers: chr19:g.33954921T>A (hg19) ; chr19:g.33464015T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464015T>A , CM000681.2:g.33464015T>A	GRCh38
NC_000019.9:g.33954921T>A , CM000681.1:g.33954921T>A	GRCh37
NC_000019.8:g.38646761T>A	NCBI36
NG_013358.1:g.62879A>T
NG_013358.2:g.62879A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.596A>T	ENSP00000468516.4:p.Asn199Ile
ENST00000651646.2:c.596A>T	ENSP00000498950.2:p.Asn199Ile
ENST00000651901.2:c.596A>T	ENSP00000498922.2:p.Asn199Ile
ENST00000698359.1:c.551A>T	ENSP00000513682.1:p.Asn184Ile
ENST00000698360.1:c.596A>T	ENSP00000513683.1:p.Asn199Ile
ENST00000698361.1:c.596A>T	ENSP00000513684.1:p.Asn199Ile
ENST00000698362.1:c.596A>T	ENSP00000513685.1:p.Asn199Ile
ENST00000698363.1:n.659A>T
ENST00000698364.1:n.659A>T
ENST00000698365.1:n.659A>T
ENST00000698426.1:c.275A>T	ENSP00000513713.1:p.Asn92Ile
ENST00000698427.1:c.638A>T	ENSP00000513714.1:p.Asn213Ile
ENST00000698428.1:c.275A>T	ENSP00000513715.1:p.Asn92Ile
ENST00000698430.1:c.846A>T
ENST00000698431.1:c.333A>T	ENSP00000513717.1:n.333A>T
ENST00000698432.1:c.405A>T
ENST00000698435.1:c.284A>T	ENSP00000513719.1:p.Asn95Ile
ENST00000698436.1:c.*208A>T	ENSP00000513720.1:n.*208A>T
ENST00000698437.1:n.579A>T
ENST00000698438.1:n.578A>T
ENST00000698439.1:c.453A>T	ENSP00000513721.1:n.453A>T
ENST00000244137.12:c.596A>T MANE Select	ENSP00000244137.5:p.Asn199Ile
ENST00000588328.6:c.585A>T
ENST00000590731.6:n.271A>T
ENST00000651646.1:c.594A>T
ENST00000651901.1:c.592A>T
ENST00000244137.11:c.596A>T	ENSP00000244137.5:p.Asn199Ile
ENST00000397032.8:c.548+14031A>T	ENSP00000380226.3:n.548+14031A>T
ENST00000436370.7:c.404A>T	ENSP00000391890.2:p.Asn135Ile
ENST00000588328.5:c.87A>T
ENST00000588719.5:n.231A>T
ENST00000590408.1:c.314A>T
ENST00000590731.5:n.271A>T
ENST00000590755.6:c.423A>T	ENSP00000476667.1:n.423A>T
ENST00000593163.5:n.761A>T
ENST00000609145.5:c.29A>T	ENSP00000476514.1:p.Asn10Ile
NM_000285.3:c.596A>T	NP_000276.2:p.Asn199Ile
NM_001166056.1:c.548+14031A>T	NP_001159528.1:n.548+14031A>T
NM_001166057.1:c.404A>T	NP_001159529.1:p.Asn135Ile
NM_000285.4:c.596A>T MANE Select	NP_000276.2:p.Asn199Ile
NM_001166056.2:c.548+14031A>T	NP_001159528.1:n.548+14031A>T
NM_001166057.2:c.404A>T	NP_001159529.1:p.Asn135Ile