Canonical Allele Identifier: CA307589434

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1294949
• ClinVar RCV Id: RCV001721614
• dbSNP Id: rs4805890
• gnomAD v2: 19-33954717-C-T
• gnomAD v3: 19-33463811-C-T
• gnomAD v4: 19-33463811-C-T
• MyVariant Identifiers: chr19:g.33954717C>T (hg19) ; chr19:g.33463811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33463811C>T , CM000681.2:g.33463811C>T	GRCh38
NC_000019.9:g.33954717C>T , CM000681.1:g.33954717C>T	GRCh37
NC_000019.8:g.38646557C>T	NCBI36
NG_013358.1:g.63083G>A
NG_013358.2:g.63083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.624+176G>A	ENSP00000468516.4:n.624+176G>A
ENST00000651646.2:c.624+176G>A	ENSP00000498950.2:n.624+176G>A
ENST00000651901.2:c.624+176G>A	ENSP00000498922.2:n.624+176G>A
ENST00000698359.1:c.579+176G>A	ENSP00000513682.1:n.579+176G>A
ENST00000698360.1:c.624+176G>A	ENSP00000513683.1:n.624+176G>A
ENST00000698361.1:c.624+176G>A	ENSP00000513684.1:n.624+176G>A
ENST00000698362.1:c.624+176G>A	ENSP00000513685.1:n.624+176G>A
ENST00000698363.1:n.687+176G>A
ENST00000698364.1:n.687+176G>A
ENST00000698365.1:n.687+176G>A
ENST00000698426.1:c.303+176G>A	ENSP00000513713.1:n.303+176G>A
ENST00000698427.1:c.666+176G>A	ENSP00000513714.1:n.666+176G>A
ENST00000698428.1:c.303+176G>A	ENSP00000513715.1:n.303+176G>A
ENST00000698430.1:c.874+176G>A
ENST00000698431.1:c.361+176G>A	ENSP00000513717.1:n.361+176G>A
ENST00000698432.1:c.433+176G>A
ENST00000698435.1:c.312+176G>A	ENSP00000513719.1:n.312+176G>A
ENST00000698436.1:c.*236+176G>A	ENSP00000513720.1:n.*236+176G>A
ENST00000698437.1:n.607+176G>A
ENST00000698438.1:n.606+176G>A
ENST00000698439.1:c.481+176G>A	ENSP00000513721.1:n.481+176G>A
ENST00000244137.12:c.624+176G>A MANE Select	ENSP00000244137.5:n.624+176G>A
ENST00000588328.6:c.613+176G>A
ENST00000590731.6:n.299+176G>A
ENST00000651646.1:c.622+176G>A
ENST00000651901.1:c.620+176G>A
ENST00000244137.11:c.624+176G>A	ENSP00000244137.5:n.624+176G>A
ENST00000397032.8:c.548+14235G>A	ENSP00000380226.3:n.548+14235G>A
ENST00000436370.7:c.432+176G>A	ENSP00000391890.2:n.432+176G>A
ENST00000588328.5:c.115+176G>A
ENST00000588719.5:n.259+176G>A
ENST00000590408.1:c.342+176G>A
ENST00000590731.5:n.299+176G>A
ENST00000590755.6:c.451+176G>A	ENSP00000476667.1:n.451+176G>A
ENST00000593163.5:n.789+176G>A
ENST00000609145.5:c.57+176G>A	ENSP00000476514.1:n.57+176G>A
NM_000285.3:c.624+176G>A	NP_000276.2:n.624+176G>A
NM_001166056.1:c.548+14235G>A	NP_001159528.1:n.548+14235G>A
NM_001166057.1:c.432+176G>A	NP_001159529.1:n.432+176G>A
NM_000285.4:c.624+176G>A MANE Select	NP_000276.2:n.624+176G>A
NM_001166056.2:c.548+14235G>A	NP_001159528.1:n.548+14235G>A
NM_001166057.2:c.432+176G>A	NP_001159529.1:n.432+176G>A