Canonical Allele Identifier: CA405219620

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878318C>G (hg19) ; chr19:g.33387412C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387412C>G , CM000681.2:g.33387412C>G	GRCh38
NC_000019.9:g.33878318C>G , CM000681.1:g.33878318C>G	GRCh37
NC_000019.8:g.38570158C>G	NCBI36
NG_013358.1:g.139482G>C
NG_013358.2:g.139482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1480G>C	ENSP00000468516.4:p.Val494Leu
ENST00000651901.2:c.1504G>C	ENSP00000498922.2:p.Val502Leu
ENST00000698359.1:c.1369G>C	ENSP00000513682.1:p.Val457Leu
ENST00000698360.1:c.1465G>C	ENSP00000513683.1:p.Val489Leu
ENST00000698361.1:c.*42G>C	ENSP00000513684.1:n.*42G>C
ENST00000698362.1:c.*551G>C	ENSP00000513685.1:n.*551G>C
ENST00000698426.1:c.1093G>C	ENSP00000513713.1:p.Val365Leu
ENST00000698427.1:c.1456G>C	ENSP00000513714.1:p.Val486Leu
ENST00000698428.1:c.1093G>C	ENSP00000513715.1:p.Val365Leu
ENST00000698429.1:n.1297G>C
ENST00000698430.1:c.1664G>C
ENST00000698431.1:c.1151G>C	ENSP00000513717.1:n.1151G>C
ENST00000698432.1:c.1223G>C
ENST00000698433.1:n.876G>C
ENST00000244137.12:c.1414G>C MANE Select	ENSP00000244137.5:p.Val472Leu
ENST00000588328.6:c.1469G>C
ENST00000651901.1:c.1500G>C
ENST00000244137.11:c.1414G>C	ENSP00000244137.5:p.Val472Leu
ENST00000397032.8:c.1291G>C	ENSP00000380226.3:p.Val431Leu
ENST00000436370.7:c.1222G>C	ENSP00000391890.2:p.Val408Leu
ENST00000589598.5:n.139G>C
ENST00000591968.1:n.486G>C
ENST00000593085.1:n.1301G>C
NM_000285.3:c.1414G>C	NP_000276.2:p.Val472Leu
NM_001166056.1:c.1291G>C	NP_001159528.1:p.Val431Leu
NM_001166057.1:c.1222G>C	NP_001159529.1:p.Val408Leu
NM_000285.4:c.1414G>C MANE Select	NP_000276.2:p.Val472Leu
NM_001166056.2:c.1291G>C	NP_001159528.1:p.Val431Leu
NM_001166057.2:c.1222G>C	NP_001159529.1:p.Val408Leu