Canonical Allele Identifier: CA405219246

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878254T>A (hg19) ; chr19:g.33387348T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387348T>A , CM000681.2:g.33387348T>A	GRCh38
NC_000019.9:g.33878254T>A , CM000681.1:g.33878254T>A	GRCh37
NC_000019.8:g.38570094T>A	NCBI36
NG_013358.1:g.139546A>T
NG_013358.2:g.139546A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1544A>T	ENSP00000468516.4:p.Lys515Met
ENST00000651901.2:c.1568A>T	ENSP00000498922.2:p.Lys523Met
ENST00000698359.1:c.1433A>T	ENSP00000513682.1:p.Lys478Met
ENST00000698360.1:c.1529A>T	ENSP00000513683.1:p.Lys510Met
ENST00000698361.1:c.*106A>T	ENSP00000513684.1:n.*106A>T
ENST00000698362.1:c.*615A>T	ENSP00000513685.1:n.*615A>T
ENST00000698426.1:c.1157A>T	ENSP00000513713.1:p.Lys386Met
ENST00000698427.1:c.1520A>T	ENSP00000513714.1:p.Lys507Met
ENST00000698428.1:c.1157A>T	ENSP00000513715.1:p.Lys386Met
ENST00000698429.1:n.1361A>T
ENST00000698430.1:c.1728A>T
ENST00000698431.1:c.1215A>T	ENSP00000513717.1:n.1215A>T
ENST00000698432.1:c.1287A>T
ENST00000244137.12:c.1478A>T MANE Select	ENSP00000244137.5:p.Lys493Met
ENST00000588328.6:c.1533A>T
ENST00000651901.1:c.1564A>T
ENST00000244137.11:c.1478A>T	ENSP00000244137.5:p.Lys493Met
ENST00000397032.8:c.1355A>T	ENSP00000380226.3:p.Lys452Met
ENST00000436370.7:c.1286A>T	ENSP00000391890.2:p.Lys429Met
ENST00000589598.5:n.203A>T
ENST00000591968.1:n.550A>T
ENST00000593085.1:n.1365A>T
NM_000285.3:c.1478A>T	NP_000276.2:p.Lys493Met
NM_001166056.1:c.1355A>T	NP_001159528.1:p.Lys452Met
NM_001166057.1:c.1286A>T	NP_001159529.1:p.Lys429Met
NM_000285.4:c.1478A>T MANE Select	NP_000276.2:p.Lys493Met
NM_001166056.2:c.1355A>T	NP_001159528.1:p.Lys452Met
NM_001166057.2:c.1286A>T	NP_001159529.1:p.Lys429Met