Canonical Allele Identifier: CA506687155

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33954929G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464023G>A , CM000681.2:g.33464023G>A	GRCh38
NC_000019.9:g.33954929G>A , CM000681.1:g.33954929G>A	GRCh37
NC_000019.8:g.38646769G>A	NCBI36
NG_013358.1:g.62871C>T
NG_013358.2:g.62871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.588C>T	ENSP00000468516.4:p.Arg196=
ENST00000651646.2:c.588C>T	ENSP00000498950.2:p.Arg196=
ENST00000651901.2:c.588C>T	ENSP00000498922.2:p.Arg196=
ENST00000698359.1:c.543C>T	ENSP00000513682.1:p.Arg181=
ENST00000698360.1:c.588C>T	ENSP00000513683.1:p.Arg196=
ENST00000698361.1:c.588C>T	ENSP00000513684.1:p.Arg196=
ENST00000698362.1:c.588C>T	ENSP00000513685.1:p.Arg196=
ENST00000698363.1:n.651C>T
ENST00000698364.1:n.651C>T
ENST00000698365.1:n.651C>T
ENST00000698426.1:c.267C>T	ENSP00000513713.1:p.Arg89=
ENST00000698427.1:c.630C>T	ENSP00000513714.1:p.Arg210=
ENST00000698428.1:c.267C>T	ENSP00000513715.1:p.Arg89=
ENST00000698430.1:c.838C>T
ENST00000698431.1:c.325C>T	ENSP00000513717.1:n.325C>T
ENST00000698432.1:c.397C>T
ENST00000698435.1:c.276C>T	ENSP00000513719.1:p.Arg92=
ENST00000698436.1:c.*200C>T	ENSP00000513720.1:n.*200C>T
ENST00000698437.1:n.571C>T
ENST00000698438.1:n.570C>T
ENST00000698439.1:c.445C>T	ENSP00000513721.1:n.445C>T
ENST00000244137.12:c.588C>T MANE Select	ENSP00000244137.5:p.Arg196=
ENST00000588328.6:c.577C>T
ENST00000590731.6:n.263C>T
ENST00000651646.1:c.586C>T
ENST00000651901.1:c.584C>T
ENST00000244137.11:c.588C>T	ENSP00000244137.5:p.Arg196=
ENST00000397032.8:c.548+14023C>T	ENSP00000380226.3:n.548+14023C>T
ENST00000436370.7:c.396C>T	ENSP00000391890.2:p.Arg132=
ENST00000588328.5:c.79C>T
ENST00000588719.5:n.223C>T
ENST00000590408.1:c.306C>T
ENST00000590731.5:n.263C>T
ENST00000590755.6:c.415C>T	ENSP00000476667.1:n.415C>T
ENST00000593163.5:n.753C>T
ENST00000609145.5:c.21C>T	ENSP00000476514.1:p.Arg7=
NM_000285.3:c.588C>T	NP_000276.2:p.Arg196=
NM_001166056.1:c.548+14023C>T	NP_001159528.1:n.548+14023C>T
NM_001166057.1:c.396C>T	NP_001159529.1:p.Arg132=
NM_000285.4:c.588C>T MANE Select	NP_000276.2:p.Arg196=
NM_001166056.2:c.548+14023C>T	NP_001159528.1:n.548+14023C>T
NM_001166057.2:c.396C>T	NP_001159529.1:p.Arg132=