Canonical Allele Identifier: CA506686787

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878339G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387433G>A , CM000681.2:g.33387433G>A	GRCh38
NC_000019.9:g.33878339G>A , CM000681.1:g.33878339G>A	GRCh37
NC_000019.8:g.38570179G>A	NCBI36
NG_013358.1:g.139461C>T
NG_013358.2:g.139461C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1459C>T	ENSP00000468516.4:p.Leu487=
ENST00000651901.2:c.1483C>T	ENSP00000498922.2:p.Leu495=
ENST00000698359.1:c.1348C>T	ENSP00000513682.1:p.Leu450=
ENST00000698360.1:c.1444C>T	ENSP00000513683.1:p.Leu482=
ENST00000698361.1:c.*21C>T	ENSP00000513684.1:n.*21C>T
ENST00000698362.1:c.*530C>T	ENSP00000513685.1:n.*530C>T
ENST00000698426.1:c.1072C>T	ENSP00000513713.1:p.Leu358=
ENST00000698427.1:c.1435C>T	ENSP00000513714.1:p.Leu479=
ENST00000698428.1:c.1072C>T	ENSP00000513715.1:p.Leu358=
ENST00000698429.1:n.1276C>T
ENST00000698430.1:c.1643C>T
ENST00000698431.1:c.1130C>T	ENSP00000513717.1:n.1130C>T
ENST00000698432.1:c.1202C>T
ENST00000698433.1:n.855C>T
ENST00000244137.12:c.1393C>T MANE Select	ENSP00000244137.5:p.Leu465=
ENST00000588328.6:c.1448C>T
ENST00000651901.1:c.1479C>T
ENST00000244137.11:c.1393C>T	ENSP00000244137.5:p.Leu465=
ENST00000397032.8:c.1270C>T	ENSP00000380226.3:p.Leu424=
ENST00000436370.7:c.1201C>T	ENSP00000391890.2:p.Leu401=
ENST00000589598.5:n.118C>T
ENST00000591968.1:n.465C>T
ENST00000593085.1:n.1280C>T
NM_000285.3:c.1393C>T	NP_000276.2:p.Leu465=
NM_001166056.1:c.1270C>T	NP_001159528.1:p.Leu424=
NM_001166057.1:c.1201C>T	NP_001159529.1:p.Leu401=
NM_000285.4:c.1393C>T MANE Select	NP_000276.2:p.Leu465=
NM_001166056.2:c.1270C>T	NP_001159528.1:p.Leu424=
NM_001166057.2:c.1201C>T	NP_001159529.1:p.Leu401=