Canonical Allele Identifier: CA506687156
Gene: PEPD HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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