Canonical Allele Identifier: CA405219331

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878267A>G (hg19) ; chr19:g.33387361A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387361A>G , CM000681.2:g.33387361A>G	GRCh38
NC_000019.9:g.33878267A>G , CM000681.1:g.33878267A>G	GRCh37
NC_000019.8:g.38570107A>G	NCBI36
NG_013358.1:g.139533T>C
NG_013358.2:g.139533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1531T>C	ENSP00000468516.4:p.Phe511Leu
ENST00000651901.2:c.1555T>C	ENSP00000498922.2:p.Phe519Leu
ENST00000698359.1:c.1420T>C	ENSP00000513682.1:p.Phe474Leu
ENST00000698360.1:c.1516T>C	ENSP00000513683.1:p.Phe506Leu
ENST00000698361.1:c.*93T>C	ENSP00000513684.1:n.*93T>C
ENST00000698362.1:c.*602T>C	ENSP00000513685.1:n.*602T>C
ENST00000698426.1:c.1144T>C	ENSP00000513713.1:p.Phe382Leu
ENST00000698427.1:c.1507T>C	ENSP00000513714.1:p.Phe503Leu
ENST00000698428.1:c.1144T>C	ENSP00000513715.1:p.Phe382Leu
ENST00000698429.1:n.1348T>C
ENST00000698430.1:c.1715T>C
ENST00000698431.1:c.1202T>C	ENSP00000513717.1:n.1202T>C
ENST00000698432.1:c.1274T>C
ENST00000698433.1:n.927T>C
ENST00000244137.12:c.1465T>C MANE Select	ENSP00000244137.5:p.Phe489Leu
ENST00000588328.6:c.1520T>C
ENST00000651901.1:c.1551T>C
ENST00000244137.11:c.1465T>C	ENSP00000244137.5:p.Phe489Leu
ENST00000397032.8:c.1342T>C	ENSP00000380226.3:p.Phe448Leu
ENST00000436370.7:c.1273T>C	ENSP00000391890.2:p.Phe425Leu
ENST00000589598.5:n.190T>C
ENST00000591968.1:n.537T>C
ENST00000593085.1:n.1352T>C
NM_000285.3:c.1465T>C	NP_000276.2:p.Phe489Leu
NM_001166056.1:c.1342T>C	NP_001159528.1:p.Phe448Leu
NM_001166057.1:c.1273T>C	NP_001159529.1:p.Phe425Leu
NM_000285.4:c.1465T>C MANE Select	NP_000276.2:p.Phe489Leu
NM_001166056.2:c.1342T>C	NP_001159528.1:p.Phe448Leu
NM_001166057.2:c.1273T>C	NP_001159529.1:p.Phe425Leu