Canonical Allele Identifier: CA405230679

Gene: PEPD

Linked Data

• gnomAD v4: 19-33463988-T-C
• MyVariant Identifiers: chr19:g.33954894T>C (hg19) ; chr19:g.33463988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33463988T>C , CM000681.2:g.33463988T>C	GRCh38
NC_000019.9:g.33954894T>C , CM000681.1:g.33954894T>C	GRCh37
NC_000019.8:g.38646734T>C	NCBI36
NG_013358.1:g.62906A>G
NG_013358.2:g.62906A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.623A>G	ENSP00000468516.4:p.Glu208Gly
ENST00000651646.2:c.623A>G	ENSP00000498950.2:p.Glu208Gly
ENST00000651901.2:c.623A>G	ENSP00000498922.2:p.Glu208Gly
ENST00000698359.1:c.578A>G	ENSP00000513682.1:p.Glu193Gly
ENST00000698360.1:c.623A>G	ENSP00000513683.1:p.Glu208Gly
ENST00000698361.1:c.623A>G	ENSP00000513684.1:p.Glu208Gly
ENST00000698362.1:c.623A>G	ENSP00000513685.1:p.Glu208Gly
ENST00000698363.1:n.686A>G
ENST00000698364.1:n.686A>G
ENST00000698365.1:n.686A>G
ENST00000698426.1:c.302A>G	ENSP00000513713.1:p.Glu101Gly
ENST00000698427.1:c.665A>G	ENSP00000513714.1:p.Glu222Gly
ENST00000698428.1:c.302A>G	ENSP00000513715.1:p.Glu101Gly
ENST00000698430.1:c.873A>G
ENST00000698431.1:c.360A>G	ENSP00000513717.1:n.360A>G
ENST00000698432.1:c.432A>G
ENST00000698435.1:c.311A>G	ENSP00000513719.1:p.Glu104Gly
ENST00000698436.1:c.*235A>G	ENSP00000513720.1:n.*235A>G
ENST00000698437.1:n.606A>G
ENST00000698438.1:n.605A>G
ENST00000698439.1:c.480A>G	ENSP00000513721.1:n.480A>G
ENST00000244137.12:c.623A>G MANE Select	ENSP00000244137.5:p.Glu208Gly
ENST00000588328.6:c.612A>G
ENST00000590731.6:n.298A>G
ENST00000651646.1:c.621A>G
ENST00000651901.1:c.619A>G
ENST00000244137.11:c.623A>G	ENSP00000244137.5:p.Glu208Gly
ENST00000397032.8:c.548+14058A>G	ENSP00000380226.3:n.548+14058A>G
ENST00000436370.7:c.431A>G	ENSP00000391890.2:p.Glu144Gly
ENST00000588328.5:c.114A>G
ENST00000588719.5:n.258A>G
ENST00000590408.1:c.341A>G
ENST00000590731.5:n.298A>G
ENST00000590755.6:c.450A>G	ENSP00000476667.1:n.450A>G
ENST00000593163.5:n.788A>G
ENST00000609145.5:c.56A>G	ENSP00000476514.1:p.Glu19Gly
NM_000285.3:c.623A>G	NP_000276.2:p.Glu208Gly
NM_001166056.1:c.548+14058A>G	NP_001159528.1:n.548+14058A>G
NM_001166057.1:c.431A>G	NP_001159529.1:p.Glu144Gly
NM_000285.4:c.623A>G MANE Select	NP_000276.2:p.Glu208Gly
NM_001166056.2:c.548+14058A>G	NP_001159528.1:n.548+14058A>G
NM_001166057.2:c.431A>G	NP_001159529.1:p.Glu144Gly