Canonical Allele Identifier: CA405219464

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878291C>G (hg19) ; chr19:g.33387385C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387385C>G , CM000681.2:g.33387385C>G	GRCh38
NC_000019.9:g.33878291C>G , CM000681.1:g.33878291C>G	GRCh37
NC_000019.8:g.38570131C>G	NCBI36
NG_013358.1:g.139509G>C
NG_013358.2:g.139509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1507G>C	ENSP00000468516.4:p.Gly503Arg
ENST00000651901.2:c.1531G>C	ENSP00000498922.2:p.Gly511Arg
ENST00000698359.1:c.1396G>C	ENSP00000513682.1:p.Gly466Arg
ENST00000698360.1:c.1492G>C	ENSP00000513683.1:p.Gly498Arg
ENST00000698361.1:c.*69G>C	ENSP00000513684.1:n.*69G>C
ENST00000698362.1:c.*578G>C	ENSP00000513685.1:n.*578G>C
ENST00000698426.1:c.1120G>C	ENSP00000513713.1:p.Gly374Arg
ENST00000698427.1:c.1483G>C	ENSP00000513714.1:p.Gly495Arg
ENST00000698428.1:c.1120G>C	ENSP00000513715.1:p.Gly374Arg
ENST00000698429.1:n.1324G>C
ENST00000698430.1:c.1691G>C
ENST00000698431.1:c.1178G>C	ENSP00000513717.1:n.1178G>C
ENST00000698432.1:c.1250G>C
ENST00000698433.1:n.903G>C
ENST00000244137.12:c.1441G>C MANE Select	ENSP00000244137.5:p.Gly481Arg
ENST00000588328.6:c.1496G>C
ENST00000651901.1:c.1527G>C
ENST00000244137.11:c.1441G>C	ENSP00000244137.5:p.Gly481Arg
ENST00000397032.8:c.1318G>C	ENSP00000380226.3:p.Gly440Arg
ENST00000436370.7:c.1249G>C	ENSP00000391890.2:p.Gly417Arg
ENST00000589598.5:n.166G>C
ENST00000591968.1:n.513G>C
ENST00000593085.1:n.1328G>C
NM_000285.3:c.1441G>C	NP_000276.2:p.Gly481Arg
NM_001166056.1:c.1318G>C	NP_001159528.1:p.Gly440Arg
NM_001166057.1:c.1249G>C	NP_001159529.1:p.Gly417Arg
NM_000285.4:c.1441G>C MANE Select	NP_000276.2:p.Gly481Arg
NM_001166056.2:c.1318G>C	NP_001159528.1:p.Gly440Arg
NM_001166057.2:c.1249G>C	NP_001159529.1:p.Gly417Arg