Canonical Allele Identifier: CA506686800

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878361C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387455C>A , CM000681.2:g.33387455C>A	GRCh38
NC_000019.9:g.33878361C>A , CM000681.1:g.33878361C>A	GRCh37
NC_000019.8:g.38570201C>A	NCBI36
NG_013358.1:g.139439G>T
NG_013358.2:g.139439G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1437G>T	ENSP00000468516.4:p.Val479=
ENST00000651901.2:c.1461G>T	ENSP00000498922.2:p.Val487=
ENST00000698359.1:c.1326G>T	ENSP00000513682.1:p.Val442=
ENST00000698360.1:c.1422G>T	ENSP00000513683.1:p.Val474=
ENST00000698361.1:c.1487G>T	ENSP00000513684.1:p.Ter496Leu
ENST00000698362.1:c.*508G>T	ENSP00000513685.1:n.*508G>T
ENST00000698426.1:c.1050G>T	ENSP00000513713.1:p.Val350=
ENST00000698427.1:c.1413G>T	ENSP00000513714.1:p.Val471=
ENST00000698428.1:c.1050G>T	ENSP00000513715.1:p.Val350=
ENST00000698429.1:n.1254G>T
ENST00000698430.1:c.1621G>T
ENST00000698431.1:c.1108G>T	ENSP00000513717.1:n.1108G>T
ENST00000698432.1:c.1180G>T
ENST00000698433.1:n.833G>T
ENST00000244137.12:c.1371G>T MANE Select	ENSP00000244137.5:p.Val457=
ENST00000588328.6:c.1426G>T
ENST00000651901.1:c.1457G>T
ENST00000244137.11:c.1371G>T	ENSP00000244137.5:p.Val457=
ENST00000397032.8:c.1248G>T	ENSP00000380226.3:p.Val416=
ENST00000436370.7:c.1179G>T	ENSP00000391890.2:p.Val393=
ENST00000589598.5:n.96G>T
ENST00000591968.1:n.443G>T
ENST00000593085.1:n.1258G>T
NM_000285.3:c.1371G>T	NP_000276.2:p.Val457=
NM_001166056.1:c.1248G>T	NP_001159528.1:p.Val416=
NM_001166057.1:c.1179G>T	NP_001159529.1:p.Val393=
NM_000285.4:c.1371G>T MANE Select	NP_000276.2:p.Val457=
NM_001166056.2:c.1248G>T	NP_001159528.1:p.Val416=
NM_001166057.2:c.1179G>T	NP_001159529.1:p.Val393=