Canonical Allele Identifier: CA405219306

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878264A>C (hg19) ; chr19:g.33387358A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387358A>C , CM000681.2:g.33387358A>C	GRCh38
NC_000019.9:g.33878264A>C , CM000681.1:g.33878264A>C	GRCh37
NC_000019.8:g.38570104A>C	NCBI36
NG_013358.1:g.139536T>G
NG_013358.2:g.139536T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1534T>G	ENSP00000468516.4:p.Ser512Ala
ENST00000651901.2:c.1558T>G	ENSP00000498922.2:p.Ser520Ala
ENST00000698359.1:c.1423T>G	ENSP00000513682.1:p.Ser475Ala
ENST00000698360.1:c.1519T>G	ENSP00000513683.1:p.Ser507Ala
ENST00000698361.1:c.*96T>G	ENSP00000513684.1:n.*96T>G
ENST00000698362.1:c.*605T>G	ENSP00000513685.1:n.*605T>G
ENST00000698426.1:c.1147T>G	ENSP00000513713.1:p.Ser383Ala
ENST00000698427.1:c.1510T>G	ENSP00000513714.1:p.Ser504Ala
ENST00000698428.1:c.1147T>G	ENSP00000513715.1:p.Ser383Ala
ENST00000698429.1:n.1351T>G
ENST00000698430.1:c.1718T>G
ENST00000698431.1:c.1205T>G	ENSP00000513717.1:n.1205T>G
ENST00000698432.1:c.1277T>G
ENST00000698433.1:n.930T>G
ENST00000244137.12:c.1468T>G MANE Select	ENSP00000244137.5:p.Ser490Ala
ENST00000588328.6:c.1523T>G
ENST00000651901.1:c.1554T>G
ENST00000244137.11:c.1468T>G	ENSP00000244137.5:p.Ser490Ala
ENST00000397032.8:c.1345T>G	ENSP00000380226.3:p.Ser449Ala
ENST00000436370.7:c.1276T>G	ENSP00000391890.2:p.Ser426Ala
ENST00000589598.5:n.193T>G
ENST00000591968.1:n.540T>G
ENST00000593085.1:n.1355T>G
NM_000285.3:c.1468T>G	NP_000276.2:p.Ser490Ala
NM_001166056.1:c.1345T>G	NP_001159528.1:p.Ser449Ala
NM_001166057.1:c.1276T>G	NP_001159529.1:p.Ser426Ala
NM_000285.4:c.1468T>G MANE Select	NP_000276.2:p.Ser490Ala
NM_001166056.2:c.1345T>G	NP_001159528.1:p.Ser449Ala
NM_001166057.2:c.1276T>G	NP_001159529.1:p.Ser426Ala