Canonical Allele Identifier: CA405230740

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33954921T>G (hg19) ; chr19:g.33464015T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.596A>C	ENSP00000468516.4:p.Asn199Thr
ENST00000651646.2:c.596A>C	ENSP00000498950.2:p.Asn199Thr
ENST00000651901.2:c.596A>C	ENSP00000498922.2:p.Asn199Thr
ENST00000698359.1:c.551A>C	ENSP00000513682.1:p.Asn184Thr
ENST00000698360.1:c.596A>C	ENSP00000513683.1:p.Asn199Thr
ENST00000698361.1:c.596A>C	ENSP00000513684.1:p.Asn199Thr
ENST00000698362.1:c.596A>C	ENSP00000513685.1:p.Asn199Thr
ENST00000698363.1:n.659A>C
ENST00000698364.1:n.659A>C
ENST00000698365.1:n.659A>C
ENST00000698426.1:c.275A>C	ENSP00000513713.1:p.Asn92Thr
ENST00000698427.1:c.638A>C	ENSP00000513714.1:p.Asn213Thr
ENST00000698428.1:c.275A>C	ENSP00000513715.1:p.Asn92Thr
ENST00000698430.1:c.846A>C
ENST00000698431.1:c.333A>C	ENSP00000513717.1:n.333A>C
ENST00000698432.1:c.405A>C
ENST00000698435.1:c.284A>C	ENSP00000513719.1:p.Asn95Thr
ENST00000698436.1:c.*208A>C	ENSP00000513720.1:n.*208A>C
ENST00000698437.1:n.579A>C
ENST00000698438.1:n.578A>C
ENST00000698439.1:c.453A>C	ENSP00000513721.1:n.453A>C
ENST00000244137.12:c.596A>C MANE Select	ENSP00000244137.5:p.Asn199Thr
ENST00000588328.6:c.585A>C
ENST00000590731.6:n.271A>C
ENST00000651646.1:c.594A>C
ENST00000651901.1:c.592A>C
ENST00000244137.11:c.596A>C	ENSP00000244137.5:p.Asn199Thr
ENST00000397032.8:c.548+14031A>C	ENSP00000380226.3:n.548+14031A>C
ENST00000436370.7:c.404A>C	ENSP00000391890.2:p.Asn135Thr
ENST00000588328.5:c.87A>C
ENST00000588719.5:n.231A>C
ENST00000590408.1:c.314A>C
ENST00000590731.5:n.271A>C
ENST00000590755.6:c.423A>C	ENSP00000476667.1:n.423A>C
ENST00000593163.5:n.761A>C
ENST00000609145.5:c.29A>C	ENSP00000476514.1:p.Asn10Thr
NM_000285.3:c.596A>C	NP_000276.2:p.Asn199Thr
NM_001166056.1:c.548+14031A>C	NP_001159528.1:n.548+14031A>C
NM_001166057.1:c.404A>C	NP_001159529.1:p.Asn135Thr
NM_000285.4:c.596A>C MANE Select	NP_000276.2:p.Asn199Thr
NM_001166056.2:c.548+14031A>C	NP_001159528.1:n.548+14031A>C
NM_001166057.2:c.404A>C	NP_001159529.1:p.Asn135Thr