Canonical Allele Identifier: CA405230757

Gene: PEPD

Linked Data

• dbSNP Id: rs1460189507
• gnomAD v2: 19-33954928-A-T
• gnomAD v3: 19-33464022-A-T
• gnomAD v4: 19-33464022-A-T
• MyVariant Identifiers: chr19:g.33954928A>T (hg19) ; chr19:g.33464022A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464022A>T , CM000681.2:g.33464022A>T	GRCh38
NC_000019.9:g.33954928A>T , CM000681.1:g.33954928A>T	GRCh37
NC_000019.8:g.38646768A>T	NCBI36
NG_013358.1:g.62872T>A
NG_013358.2:g.62872T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.589T>A	ENSP00000468516.4:p.Tyr197Asn
ENST00000651646.2:c.589T>A	ENSP00000498950.2:p.Tyr197Asn
ENST00000651901.2:c.589T>A	ENSP00000498922.2:p.Tyr197Asn
ENST00000698359.1:c.544T>A	ENSP00000513682.1:p.Tyr182Asn
ENST00000698360.1:c.589T>A	ENSP00000513683.1:p.Tyr197Asn
ENST00000698361.1:c.589T>A	ENSP00000513684.1:p.Tyr197Asn
ENST00000698362.1:c.589T>A	ENSP00000513685.1:p.Tyr197Asn
ENST00000698363.1:n.652T>A
ENST00000698364.1:n.652T>A
ENST00000698365.1:n.652T>A
ENST00000698426.1:c.268T>A	ENSP00000513713.1:p.Tyr90Asn
ENST00000698427.1:c.631T>A	ENSP00000513714.1:p.Tyr211Asn
ENST00000698428.1:c.268T>A	ENSP00000513715.1:p.Tyr90Asn
ENST00000698430.1:c.839T>A
ENST00000698431.1:c.326T>A	ENSP00000513717.1:n.326T>A
ENST00000698432.1:c.398T>A
ENST00000698435.1:c.277T>A	ENSP00000513719.1:p.Tyr93Asn
ENST00000698436.1:c.*201T>A	ENSP00000513720.1:n.*201T>A
ENST00000698437.1:n.572T>A
ENST00000698438.1:n.571T>A
ENST00000698439.1:c.446T>A	ENSP00000513721.1:n.446T>A
ENST00000244137.12:c.589T>A MANE Select	ENSP00000244137.5:p.Tyr197Asn
ENST00000588328.6:c.578T>A
ENST00000590731.6:n.264T>A
ENST00000651646.1:c.587T>A
ENST00000651901.1:c.585T>A
ENST00000244137.11:c.589T>A	ENSP00000244137.5:p.Tyr197Asn
ENST00000397032.8:c.548+14024T>A	ENSP00000380226.3:n.548+14024T>A
ENST00000436370.7:c.397T>A	ENSP00000391890.2:p.Tyr133Asn
ENST00000588328.5:c.80T>A
ENST00000588719.5:n.224T>A
ENST00000590408.1:c.307T>A
ENST00000590731.5:n.264T>A
ENST00000590755.6:c.416T>A	ENSP00000476667.1:n.416T>A
ENST00000593163.5:n.754T>A
ENST00000609145.5:c.22T>A	ENSP00000476514.1:p.Tyr8Asn
NM_000285.3:c.589T>A	NP_000276.2:p.Tyr197Asn
NM_001166056.1:c.548+14024T>A	NP_001159528.1:n.548+14024T>A
NM_001166057.1:c.397T>A	NP_001159529.1:p.Tyr133Asn
NM_000285.4:c.589T>A MANE Select	NP_000276.2:p.Tyr197Asn
NM_001166056.2:c.548+14024T>A	NP_001159528.1:n.548+14024T>A
NM_001166057.2:c.397T>A	NP_001159529.1:p.Tyr133Asn