Canonical Allele Identifier: CA658799175

Gene: PEPD

Linked Data

• ClinVar Variation Id: 522945
• ClinVar RCV Id: RCV000626142
• dbSNP Id: rs1555769771
• gnomAD v4: 19-33500934-C-T
• MyVariant Identifiers: chr19:g.33991840C>T (hg19) ; chr19:g.33500934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33500934C>T , CM000681.2:g.33500934C>T	GRCh38
NC_000019.9:g.33991840C>T , CM000681.1:g.33991840C>T	GRCh37
NC_000019.8:g.38683680C>T	NCBI36
NG_013358.1:g.25960G>A
NG_013358.2:g.25960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.393+4G>A	ENSP00000468516.4:n.393+4G>A
ENST00000651646.2:c.393+4G>A	ENSP00000498950.2:n.393+4G>A
ENST00000651901.2:c.393+4G>A	ENSP00000498922.2:n.393+4G>A
ENST00000698359.1:c.393+4G>A	ENSP00000513682.1:n.393+4G>A
ENST00000698360.1:c.393+4G>A	ENSP00000513683.1:n.393+4G>A
ENST00000698361.1:c.393+4G>A	ENSP00000513684.1:n.393+4G>A
ENST00000698362.1:c.393+4G>A	ENSP00000513685.1:n.393+4G>A
ENST00000698363.1:n.456+4G>A
ENST00000698364.1:n.456+4G>A
ENST00000698365.1:n.456+4G>A
ENST00000698426.1:c.72+4G>A	ENSP00000513713.1:n.72+4G>A
ENST00000698427.1:c.435+4G>A	ENSP00000513714.1:n.435+4G>A
ENST00000698428.1:c.72+4G>A	ENSP00000513715.1:n.72+4G>A
ENST00000698430.1:c.643+4G>A
ENST00000698431.1:c.192+4G>A	ENSP00000513717.1:n.192+4G>A
ENST00000698432.1:c.312+10094G>A
ENST00000698435.1:c.81+4G>A	ENSP00000513719.1:n.81+4G>A
ENST00000698436.1:c.*5+4G>A	ENSP00000513720.1:n.*5+4G>A
ENST00000698437.1:n.376+4G>A
ENST00000698438.1:n.375+4G>A
ENST00000698439.1:c.360+4G>A	ENSP00000513721.1:n.360+4G>A
ENST00000244137.12:c.393+4G>A MANE Select	ENSP00000244137.5:n.393+4G>A
ENST00000588328.6:c.382+4G>A
ENST00000593163.6:n.558+4G>A
ENST00000651646.1:c.391+4G>A
ENST00000651901.1:c.389+4G>A
ENST00000244137.11:c.393+4G>A	ENSP00000244137.5:n.393+4G>A
ENST00000397032.8:c.393+4G>A	ENSP00000380226.3:n.393+4G>A
ENST00000436370.7:c.202-7597G>A	ENSP00000391890.2:n.202-7597G>A
ENST00000590408.1:c.112-7597G>A
ENST00000593163.5:n.558+4G>A
NM_000285.3:c.393+4G>A	NP_000276.2:n.393+4G>A
NM_001166056.1:c.393+4G>A	NP_001159528.1:n.393+4G>A
NM_001166057.1:c.202-7597G>A	NP_001159529.1:n.202-7597G>A
NM_000285.4:c.393+4G>A MANE Select	NP_000276.2:n.393+4G>A
NM_001166056.2:c.393+4G>A	NP_001159528.1:n.393+4G>A
NM_001166057.2:c.202-7597G>A	NP_001159529.1:n.202-7597G>A