Canonical Allele Identifier: CA405219378

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878276A>G (hg19) ; chr19:g.33387370A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387370A>G , CM000681.2:g.33387370A>G	GRCh38
NC_000019.9:g.33878276A>G , CM000681.1:g.33878276A>G	GRCh37
NC_000019.8:g.38570116A>G	NCBI36
NG_013358.1:g.139524T>C
NG_013358.2:g.139524T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1522T>C	ENSP00000468516.4:p.Phe508Leu
ENST00000651901.2:c.1546T>C	ENSP00000498922.2:p.Phe516Leu
ENST00000698359.1:c.1411T>C	ENSP00000513682.1:p.Phe471Leu
ENST00000698360.1:c.1507T>C	ENSP00000513683.1:p.Phe503Leu
ENST00000698361.1:c.*84T>C	ENSP00000513684.1:n.*84T>C
ENST00000698362.1:c.*593T>C	ENSP00000513685.1:n.*593T>C
ENST00000698426.1:c.1135T>C	ENSP00000513713.1:p.Phe379Leu
ENST00000698427.1:c.1498T>C	ENSP00000513714.1:p.Phe500Leu
ENST00000698428.1:c.1135T>C	ENSP00000513715.1:p.Phe379Leu
ENST00000698429.1:n.1339T>C
ENST00000698430.1:c.1706T>C
ENST00000698431.1:c.1193T>C	ENSP00000513717.1:n.1193T>C
ENST00000698432.1:c.1265T>C
ENST00000698433.1:n.918T>C
ENST00000244137.12:c.1456T>C MANE Select	ENSP00000244137.5:p.Phe486Leu
ENST00000588328.6:c.1511T>C
ENST00000651901.1:c.1542T>C
ENST00000244137.11:c.1456T>C	ENSP00000244137.5:p.Phe486Leu
ENST00000397032.8:c.1333T>C	ENSP00000380226.3:p.Phe445Leu
ENST00000436370.7:c.1264T>C	ENSP00000391890.2:p.Phe422Leu
ENST00000589598.5:n.181T>C
ENST00000591968.1:n.528T>C
ENST00000593085.1:n.1343T>C
NM_000285.3:c.1456T>C	NP_000276.2:p.Phe486Leu
NM_001166056.1:c.1333T>C	NP_001159528.1:p.Phe445Leu
NM_001166057.1:c.1264T>C	NP_001159529.1:p.Phe422Leu
NM_000285.4:c.1456T>C MANE Select	NP_000276.2:p.Phe486Leu
NM_001166056.2:c.1333T>C	NP_001159528.1:p.Phe445Leu
NM_001166057.2:c.1264T>C	NP_001159529.1:p.Phe422Leu