Canonical Allele Identifier: CA506687127

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33954902G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33463996G>T , CM000681.2:g.33463996G>T	GRCh38
NC_000019.9:g.33954902G>T , CM000681.1:g.33954902G>T	GRCh37
NC_000019.8:g.38646742G>T	NCBI36
NG_013358.1:g.62898C>A
NG_013358.2:g.62898C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.615C>A	ENSP00000468516.4:p.Ala205=
ENST00000651646.2:c.615C>A	ENSP00000498950.2:p.Ala205=
ENST00000651901.2:c.615C>A	ENSP00000498922.2:p.Ala205=
ENST00000698359.1:c.570C>A	ENSP00000513682.1:p.Ala190=
ENST00000698360.1:c.615C>A	ENSP00000513683.1:p.Ala205=
ENST00000698361.1:c.615C>A	ENSP00000513684.1:p.Ala205=
ENST00000698362.1:c.615C>A	ENSP00000513685.1:p.Ala205=
ENST00000698363.1:n.678C>A
ENST00000698364.1:n.678C>A
ENST00000698365.1:n.678C>A
ENST00000698426.1:c.294C>A	ENSP00000513713.1:p.Ala98=
ENST00000698427.1:c.657C>A	ENSP00000513714.1:p.Ala219=
ENST00000698428.1:c.294C>A	ENSP00000513715.1:p.Ala98=
ENST00000698430.1:c.865C>A
ENST00000698431.1:c.352C>A	ENSP00000513717.1:n.352C>A
ENST00000698432.1:c.424C>A
ENST00000698435.1:c.303C>A	ENSP00000513719.1:p.Ala101=
ENST00000698436.1:c.*227C>A	ENSP00000513720.1:n.*227C>A
ENST00000698437.1:n.598C>A
ENST00000698438.1:n.597C>A
ENST00000698439.1:c.472C>A	ENSP00000513721.1:n.472C>A
ENST00000244137.12:c.615C>A MANE Select	ENSP00000244137.5:p.Ala205=
ENST00000588328.6:c.604C>A
ENST00000590731.6:n.290C>A
ENST00000651646.1:c.613C>A
ENST00000651901.1:c.611C>A
ENST00000244137.11:c.615C>A	ENSP00000244137.5:p.Ala205=
ENST00000397032.8:c.548+14050C>A	ENSP00000380226.3:n.548+14050C>A
ENST00000436370.7:c.423C>A	ENSP00000391890.2:p.Ala141=
ENST00000588328.5:c.106C>A
ENST00000588719.5:n.250C>A
ENST00000590408.1:c.333C>A
ENST00000590731.5:n.290C>A
ENST00000590755.6:c.442C>A	ENSP00000476667.1:n.442C>A
ENST00000593163.5:n.780C>A
ENST00000609145.5:c.48C>A	ENSP00000476514.1:p.Ala16=
NM_000285.3:c.615C>A	NP_000276.2:p.Ala205=
NM_001166056.1:c.548+14050C>A	NP_001159528.1:n.548+14050C>A
NM_001166057.1:c.423C>A	NP_001159529.1:p.Ala141=
NM_000285.4:c.615C>A MANE Select	NP_000276.2:p.Ala205=
NM_001166056.2:c.548+14050C>A	NP_001159528.1:n.548+14050C>A
NM_001166057.2:c.423C>A	NP_001159529.1:p.Ala141=