Canonical Allele Identifier: CA405219457

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878290C>G (hg19) ; chr19:g.33387384C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387384C>G , CM000681.2:g.33387384C>G	GRCh38
NC_000019.9:g.33878290C>G , CM000681.1:g.33878290C>G	GRCh37
NC_000019.8:g.38570130C>G	NCBI36
NG_013358.1:g.139510G>C
NG_013358.2:g.139510G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1508G>C	ENSP00000468516.4:p.Gly503Ala
ENST00000651901.2:c.1532G>C	ENSP00000498922.2:p.Gly511Ala
ENST00000698359.1:c.1397G>C	ENSP00000513682.1:p.Gly466Ala
ENST00000698360.1:c.1493G>C	ENSP00000513683.1:p.Gly498Ala
ENST00000698361.1:c.*70G>C	ENSP00000513684.1:n.*70G>C
ENST00000698362.1:c.*579G>C	ENSP00000513685.1:n.*579G>C
ENST00000698426.1:c.1121G>C	ENSP00000513713.1:p.Gly374Ala
ENST00000698427.1:c.1484G>C	ENSP00000513714.1:p.Gly495Ala
ENST00000698428.1:c.1121G>C	ENSP00000513715.1:p.Gly374Ala
ENST00000698429.1:n.1325G>C
ENST00000698430.1:c.1692G>C
ENST00000698431.1:c.1179G>C	ENSP00000513717.1:n.1179G>C
ENST00000698432.1:c.1251G>C
ENST00000698433.1:n.904G>C
ENST00000244137.12:c.1442G>C MANE Select	ENSP00000244137.5:p.Gly481Ala
ENST00000588328.6:c.1497G>C
ENST00000651901.1:c.1528G>C
ENST00000244137.11:c.1442G>C	ENSP00000244137.5:p.Gly481Ala
ENST00000397032.8:c.1319G>C	ENSP00000380226.3:p.Gly440Ala
ENST00000436370.7:c.1250G>C	ENSP00000391890.2:p.Gly417Ala
ENST00000589598.5:n.167G>C
ENST00000591968.1:n.514G>C
ENST00000593085.1:n.1329G>C
NM_000285.3:c.1442G>C	NP_000276.2:p.Gly481Ala
NM_001166056.1:c.1319G>C	NP_001159528.1:p.Gly440Ala
NM_001166057.1:c.1250G>C	NP_001159529.1:p.Gly417Ala
NM_000285.4:c.1442G>C MANE Select	NP_000276.2:p.Gly481Ala
NM_001166056.2:c.1319G>C	NP_001159528.1:p.Gly440Ala
NM_001166057.2:c.1250G>C	NP_001159529.1:p.Gly417Ala