Canonical Allele Identifier: CA405219728

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878366C>A (hg19) ; chr19:g.33387460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387460C>A , CM000681.2:g.33387460C>A	GRCh38
NC_000019.9:g.33878366C>A , CM000681.1:g.33878366C>A	GRCh37
NC_000019.8:g.38570206C>A	NCBI36
NG_013358.1:g.139434G>T
NG_013358.2:g.139434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1432G>T	ENSP00000468516.4:p.Val478Leu
ENST00000651901.2:c.1456G>T	ENSP00000498922.2:p.Val486Leu
ENST00000698359.1:c.1321G>T	ENSP00000513682.1:p.Val441Leu
ENST00000698360.1:c.1417G>T	ENSP00000513683.1:p.Val473Leu
ENST00000698361.1:c.1482G>T	ENSP00000513684.1:p.Ser494=
ENST00000698362.1:c.*503G>T	ENSP00000513685.1:n.*503G>T
ENST00000698426.1:c.1045G>T	ENSP00000513713.1:p.Val349Leu
ENST00000698427.1:c.1408G>T	ENSP00000513714.1:p.Val470Leu
ENST00000698428.1:c.1045G>T	ENSP00000513715.1:p.Val349Leu
ENST00000698429.1:n.1249G>T
ENST00000698430.1:c.1616G>T
ENST00000698431.1:c.1103G>T	ENSP00000513717.1:n.1103G>T
ENST00000698432.1:c.1175G>T
ENST00000698433.1:n.828G>T
ENST00000244137.12:c.1366G>T MANE Select	ENSP00000244137.5:p.Val456Leu
ENST00000588328.6:c.1421G>T
ENST00000651901.1:c.1452G>T
ENST00000244137.11:c.1366G>T	ENSP00000244137.5:p.Val456Leu
ENST00000397032.8:c.1243G>T	ENSP00000380226.3:p.Val415Leu
ENST00000436370.7:c.1174G>T	ENSP00000391890.2:p.Val392Leu
ENST00000589598.5:n.91G>T
ENST00000591968.1:n.438G>T
ENST00000593085.1:n.1253G>T
NM_000285.3:c.1366G>T	NP_000276.2:p.Val456Leu
NM_001166056.1:c.1243G>T	NP_001159528.1:p.Val415Leu
NM_001166057.1:c.1174G>T	NP_001159529.1:p.Val392Leu
NM_000285.4:c.1366G>T MANE Select	NP_000276.2:p.Val456Leu
NM_001166056.2:c.1243G>T	NP_001159528.1:p.Val415Leu
NM_001166057.2:c.1174G>T	NP_001159529.1:p.Val392Leu