Canonical Allele Identifier: CA405230746

Gene: PEPD

Linked Data

• gnomAD v4: 19-33464018-G-T
• MyVariant Identifiers: chr19:g.33954924G>T (hg19) ; chr19:g.33464018G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464018G>T , CM000681.2:g.33464018G>T	GRCh38
NC_000019.9:g.33954924G>T , CM000681.1:g.33954924G>T	GRCh37
NC_000019.8:g.38646764G>T	NCBI36
NG_013358.1:g.62876C>A
NG_013358.2:g.62876C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.593C>A	ENSP00000468516.4:p.Thr198Asn
ENST00000651646.2:c.593C>A	ENSP00000498950.2:p.Thr198Asn
ENST00000651901.2:c.593C>A	ENSP00000498922.2:p.Thr198Asn
ENST00000698359.1:c.548C>A	ENSP00000513682.1:p.Thr183Asn
ENST00000698360.1:c.593C>A	ENSP00000513683.1:p.Thr198Asn
ENST00000698361.1:c.593C>A	ENSP00000513684.1:p.Thr198Asn
ENST00000698362.1:c.593C>A	ENSP00000513685.1:p.Thr198Asn
ENST00000698363.1:n.656C>A
ENST00000698364.1:n.656C>A
ENST00000698365.1:n.656C>A
ENST00000698426.1:c.272C>A	ENSP00000513713.1:p.Thr91Asn
ENST00000698427.1:c.635C>A	ENSP00000513714.1:p.Thr212Asn
ENST00000698428.1:c.272C>A	ENSP00000513715.1:p.Thr91Asn
ENST00000698430.1:c.843C>A
ENST00000698431.1:c.330C>A	ENSP00000513717.1:n.330C>A
ENST00000698432.1:c.402C>A
ENST00000698435.1:c.281C>A	ENSP00000513719.1:p.Thr94Asn
ENST00000698436.1:c.*205C>A	ENSP00000513720.1:n.*205C>A
ENST00000698437.1:n.576C>A
ENST00000698438.1:n.575C>A
ENST00000698439.1:c.450C>A	ENSP00000513721.1:n.450C>A
ENST00000244137.12:c.593C>A MANE Select	ENSP00000244137.5:p.Thr198Asn
ENST00000588328.6:c.582C>A
ENST00000590731.6:n.268C>A
ENST00000651646.1:c.591C>A
ENST00000651901.1:c.589C>A
ENST00000244137.11:c.593C>A	ENSP00000244137.5:p.Thr198Asn
ENST00000397032.8:c.548+14028C>A	ENSP00000380226.3:n.548+14028C>A
ENST00000436370.7:c.401C>A	ENSP00000391890.2:p.Thr134Asn
ENST00000588328.5:c.84C>A
ENST00000588719.5:n.228C>A
ENST00000590408.1:c.311C>A
ENST00000590731.5:n.268C>A
ENST00000590755.6:c.420C>A	ENSP00000476667.1:n.420C>A
ENST00000593163.5:n.758C>A
ENST00000609145.5:c.26C>A	ENSP00000476514.1:p.Thr9Asn
NM_000285.3:c.593C>A	NP_000276.2:p.Thr198Asn
NM_001166056.1:c.548+14028C>A	NP_001159528.1:n.548+14028C>A
NM_001166057.1:c.401C>A	NP_001159529.1:p.Thr134Asn
NM_000285.4:c.593C>A MANE Select	NP_000276.2:p.Thr198Asn
NM_001166056.2:c.548+14028C>A	NP_001159528.1:n.548+14028C>A
NM_001166057.2:c.401C>A	NP_001159529.1:p.Thr134Asn