Canonical Allele Identifier: CA405230744

Gene: PEPD

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.593C>T	ENSP00000468516.4:p.Thr198Ile
ENST00000651646.2:c.593C>T	ENSP00000498950.2:p.Thr198Ile
ENST00000651901.2:c.593C>T	ENSP00000498922.2:p.Thr198Ile
ENST00000698359.1:c.548C>T	ENSP00000513682.1:p.Thr183Ile
ENST00000698360.1:c.593C>T	ENSP00000513683.1:p.Thr198Ile
ENST00000698361.1:c.593C>T	ENSP00000513684.1:p.Thr198Ile
ENST00000698362.1:c.593C>T	ENSP00000513685.1:p.Thr198Ile
ENST00000698363.1:n.656C>T
ENST00000698364.1:n.656C>T
ENST00000698365.1:n.656C>T
ENST00000698426.1:c.272C>T	ENSP00000513713.1:p.Thr91Ile
ENST00000698427.1:c.635C>T	ENSP00000513714.1:p.Thr212Ile
ENST00000698428.1:c.272C>T	ENSP00000513715.1:p.Thr91Ile
ENST00000698430.1:c.843C>T
ENST00000698431.1:c.330C>T	ENSP00000513717.1:n.330C>T
ENST00000698432.1:c.402C>T
ENST00000698435.1:c.281C>T	ENSP00000513719.1:p.Thr94Ile
ENST00000698436.1:c.*205C>T	ENSP00000513720.1:n.*205C>T
ENST00000698437.1:n.576C>T
ENST00000698438.1:n.575C>T
ENST00000698439.1:c.450C>T	ENSP00000513721.1:n.450C>T
ENST00000244137.12:c.593C>T MANE Select	ENSP00000244137.5:p.Thr198Ile
ENST00000588328.6:c.582C>T
ENST00000590731.6:n.268C>T
ENST00000651646.1:c.591C>T
ENST00000651901.1:c.589C>T
ENST00000244137.11:c.593C>T	ENSP00000244137.5:p.Thr198Ile
ENST00000397032.8:c.548+14028C>T	ENSP00000380226.3:n.548+14028C>T
ENST00000436370.7:c.401C>T	ENSP00000391890.2:p.Thr134Ile
ENST00000588328.5:c.84C>T
ENST00000588719.5:n.228C>T
ENST00000590408.1:c.311C>T
ENST00000590731.5:n.268C>T
ENST00000590755.6:c.420C>T	ENSP00000476667.1:n.420C>T
ENST00000593163.5:n.758C>T
ENST00000609145.5:c.26C>T	ENSP00000476514.1:p.Thr9Ile
NM_000285.3:c.593C>T	NP_000276.2:p.Thr198Ile
NM_001166056.1:c.548+14028C>T	NP_001159528.1:n.548+14028C>T
NM_001166057.1:c.401C>T	NP_001159529.1:p.Thr134Ile
NM_000285.4:c.593C>T MANE Select	NP_000276.2:p.Thr198Ile
NM_001166056.2:c.548+14028C>T	NP_001159528.1:n.548+14028C>T
NM_001166057.2:c.401C>T	NP_001159529.1:p.Thr134Ile