Canonical Allele Identifier: CA405230709

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33954908G>C (hg19) ; chr19:g.33464002G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464002G>C , CM000681.2:g.33464002G>C	GRCh38
NC_000019.9:g.33954908G>C , CM000681.1:g.33954908G>C	GRCh37
NC_000019.8:g.38646748G>C	NCBI36
NG_013358.1:g.62892C>G
NG_013358.2:g.62892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.609C>G	ENSP00000468516.4:p.Ser203Arg
ENST00000651646.2:c.609C>G	ENSP00000498950.2:p.Ser203Arg
ENST00000651901.2:c.609C>G	ENSP00000498922.2:p.Ser203Arg
ENST00000698359.1:c.564C>G	ENSP00000513682.1:p.Ser188Arg
ENST00000698360.1:c.609C>G	ENSP00000513683.1:p.Ser203Arg
ENST00000698361.1:c.609C>G	ENSP00000513684.1:p.Ser203Arg
ENST00000698362.1:c.609C>G	ENSP00000513685.1:p.Ser203Arg
ENST00000698363.1:n.672C>G
ENST00000698364.1:n.672C>G
ENST00000698365.1:n.672C>G
ENST00000698426.1:c.288C>G	ENSP00000513713.1:p.Ser96Arg
ENST00000698427.1:c.651C>G	ENSP00000513714.1:p.Ser217Arg
ENST00000698428.1:c.288C>G	ENSP00000513715.1:p.Ser96Arg
ENST00000698430.1:c.859C>G
ENST00000698431.1:c.346C>G	ENSP00000513717.1:n.346C>G
ENST00000698432.1:c.418C>G
ENST00000698435.1:c.297C>G	ENSP00000513719.1:p.Ser99Arg
ENST00000698436.1:c.*221C>G	ENSP00000513720.1:n.*221C>G
ENST00000698437.1:n.592C>G
ENST00000698438.1:n.591C>G
ENST00000698439.1:c.466C>G	ENSP00000513721.1:n.466C>G
ENST00000244137.12:c.609C>G MANE Select	ENSP00000244137.5:p.Ser203Arg
ENST00000588328.6:c.598C>G
ENST00000590731.6:n.284C>G
ENST00000651646.1:c.607C>G
ENST00000651901.1:c.605C>G
ENST00000244137.11:c.609C>G	ENSP00000244137.5:p.Ser203Arg
ENST00000397032.8:c.548+14044C>G	ENSP00000380226.3:n.548+14044C>G
ENST00000436370.7:c.417C>G	ENSP00000391890.2:p.Ser139Arg
ENST00000588328.5:c.100C>G
ENST00000588719.5:n.244C>G
ENST00000590408.1:c.327C>G
ENST00000590731.5:n.284C>G
ENST00000590755.6:c.436C>G	ENSP00000476667.1:n.436C>G
ENST00000593163.5:n.774C>G
ENST00000609145.5:c.42C>G	ENSP00000476514.1:p.Ser14Arg
NM_000285.3:c.609C>G	NP_000276.2:p.Ser203Arg
NM_001166056.1:c.548+14044C>G	NP_001159528.1:n.548+14044C>G
NM_001166057.1:c.417C>G	NP_001159529.1:p.Ser139Arg
NM_000285.4:c.609C>G MANE Select	NP_000276.2:p.Ser203Arg
NM_001166056.2:c.548+14044C>G	NP_001159528.1:n.548+14044C>G
NM_001166057.2:c.417C>G	NP_001159529.1:p.Ser139Arg