Canonical Allele Identifier: CA405230846

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33954970T>G (hg19) ; chr19:g.33464064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464064T>G , CM000681.2:g.33464064T>G	GRCh38
NC_000019.9:g.33954970T>G , CM000681.1:g.33954970T>G	GRCh37
NC_000019.8:g.38646810T>G	NCBI36
NG_013358.1:g.62830A>C
NG_013358.2:g.62830A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.549-2A>C	ENSP00000468516.4:n.549-2A>C
ENST00000651646.2:c.549-2A>C	ENSP00000498950.2:n.549-2A>C
ENST00000651901.2:c.549-2A>C	ENSP00000498922.2:n.549-2A>C
ENST00000698359.1:c.504-2A>C	ENSP00000513682.1:n.504-2A>C
ENST00000698360.1:c.549-2A>C	ENSP00000513683.1:n.549-2A>C
ENST00000698361.1:c.549-2A>C	ENSP00000513684.1:n.549-2A>C
ENST00000698362.1:c.549-2A>C	ENSP00000513685.1:n.549-2A>C
ENST00000698363.1:n.612-2A>C
ENST00000698364.1:n.612-2A>C
ENST00000698365.1:n.612-2A>C
ENST00000698426.1:c.228-2A>C	ENSP00000513713.1:n.228-2A>C
ENST00000698427.1:c.591-2A>C	ENSP00000513714.1:n.591-2A>C
ENST00000698428.1:c.228-2A>C	ENSP00000513715.1:n.228-2A>C
ENST00000698430.1:c.799-2A>C
ENST00000698431.1:c.286-2A>C	ENSP00000513717.1:n.286-2A>C
ENST00000698432.1:c.358-2A>C
ENST00000698435.1:c.237-2A>C	ENSP00000513719.1:n.237-2A>C
ENST00000698436.1:c.*161-2A>C	ENSP00000513720.1:n.*161-2A>C
ENST00000698437.1:n.532-2A>C
ENST00000698438.1:n.531-2A>C
ENST00000698439.1:c.406-2A>C	ENSP00000513721.1:n.406-2A>C
ENST00000244137.12:c.549-2A>C MANE Select	ENSP00000244137.5:n.549-2A>C
ENST00000588328.6:c.538-2A>C
ENST00000590731.6:n.224-2A>C
ENST00000651646.1:c.547-2A>C
ENST00000651901.1:c.545-2A>C
ENST00000244137.11:c.549-2A>C	ENSP00000244137.5:n.549-2A>C
ENST00000397032.8:c.548+13982A>C	ENSP00000380226.3:n.548+13982A>C
ENST00000436370.7:c.357-2A>C	ENSP00000391890.2:n.357-2A>C
ENST00000588328.5:c.40-2A>C
ENST00000588719.5:n.184-2A>C
ENST00000590408.1:c.267-2A>C
ENST00000590731.5:n.224-2A>C
ENST00000590755.6:c.376-2A>C	ENSP00000476667.1:n.376-2A>C
ENST00000593163.5:n.714-2A>C
ENST00000609145.5:c.-19-2A>C	ENSP00000476514.1:n.-19-2A>C
NM_000285.3:c.549-2A>C	NP_000276.2:n.549-2A>C
NM_001166056.1:c.548+13982A>C	NP_001159528.1:n.548+13982A>C
NM_001166057.1:c.357-2A>C	NP_001159529.1:n.357-2A>C
NM_000285.4:c.549-2A>C MANE Select	NP_000276.2:n.549-2A>C
NM_001166056.2:c.548+13982A>C	NP_001159528.1:n.548+13982A>C
NM_001166057.2:c.357-2A>C	NP_001159529.1:n.357-2A>C