Canonical Allele Identifier: CA405219672

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878338A>G (hg19) ; chr19:g.33387432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387432A>G , CM000681.2:g.33387432A>G	GRCh38
NC_000019.9:g.33878338A>G , CM000681.1:g.33878338A>G	GRCh37
NC_000019.8:g.38570178A>G	NCBI36
NG_013358.1:g.139462T>C
NG_013358.2:g.139462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1460T>C	ENSP00000468516.4:p.Leu487Pro
ENST00000651901.2:c.1484T>C	ENSP00000498922.2:p.Leu495Pro
ENST00000698359.1:c.1349T>C	ENSP00000513682.1:p.Leu450Pro
ENST00000698360.1:c.1445T>C	ENSP00000513683.1:p.Leu482Pro
ENST00000698361.1:c.*22T>C	ENSP00000513684.1:n.*22T>C
ENST00000698362.1:c.*531T>C	ENSP00000513685.1:n.*531T>C
ENST00000698426.1:c.1073T>C	ENSP00000513713.1:p.Leu358Pro
ENST00000698427.1:c.1436T>C	ENSP00000513714.1:p.Leu479Pro
ENST00000698428.1:c.1073T>C	ENSP00000513715.1:p.Leu358Pro
ENST00000698429.1:n.1277T>C
ENST00000698430.1:c.1644T>C
ENST00000698431.1:c.1131T>C	ENSP00000513717.1:n.1131T>C
ENST00000698432.1:c.1203T>C
ENST00000698433.1:n.856T>C
ENST00000244137.12:c.1394T>C MANE Select	ENSP00000244137.5:p.Leu465Pro
ENST00000588328.6:c.1449T>C
ENST00000651901.1:c.1480T>C
ENST00000244137.11:c.1394T>C	ENSP00000244137.5:p.Leu465Pro
ENST00000397032.8:c.1271T>C	ENSP00000380226.3:p.Leu424Pro
ENST00000436370.7:c.1202T>C	ENSP00000391890.2:p.Leu401Pro
ENST00000589598.5:n.119T>C
ENST00000591968.1:n.466T>C
ENST00000593085.1:n.1281T>C
NM_000285.3:c.1394T>C	NP_000276.2:p.Leu465Pro
NM_001166056.1:c.1271T>C	NP_001159528.1:p.Leu424Pro
NM_001166057.1:c.1202T>C	NP_001159529.1:p.Leu401Pro
NM_000285.4:c.1394T>C MANE Select	NP_000276.2:p.Leu465Pro
NM_001166056.2:c.1271T>C	NP_001159528.1:p.Leu424Pro
NM_001166057.2:c.1202T>C	NP_001159529.1:p.Leu401Pro