Canonical Allele Identifier: CA506686757

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878301T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387395T>A , CM000681.2:g.33387395T>A	GRCh38
NC_000019.9:g.33878301T>A , CM000681.1:g.33878301T>A	GRCh37
NC_000019.8:g.38570141T>A	NCBI36
NG_013358.1:g.139499A>T
NG_013358.2:g.139499A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1497A>T	ENSP00000468516.4:p.Ala499=
ENST00000651901.2:c.1521A>T	ENSP00000498922.2:p.Ala507=
ENST00000698359.1:c.1386A>T	ENSP00000513682.1:p.Ala462=
ENST00000698360.1:c.1482A>T	ENSP00000513683.1:p.Ala494=
ENST00000698361.1:c.*59A>T	ENSP00000513684.1:n.*59A>T
ENST00000698362.1:c.*568A>T	ENSP00000513685.1:n.*568A>T
ENST00000698426.1:c.1110A>T	ENSP00000513713.1:p.Ala370=
ENST00000698427.1:c.1473A>T	ENSP00000513714.1:p.Ala491=
ENST00000698428.1:c.1110A>T	ENSP00000513715.1:p.Ala370=
ENST00000698429.1:n.1314A>T
ENST00000698430.1:c.1681A>T
ENST00000698431.1:c.1168A>T	ENSP00000513717.1:n.1168A>T
ENST00000698432.1:c.1240A>T
ENST00000698433.1:n.893A>T
ENST00000244137.12:c.1431A>T MANE Select	ENSP00000244137.5:p.Ala477=
ENST00000588328.6:c.1486A>T
ENST00000651901.1:c.1517A>T
ENST00000244137.11:c.1431A>T	ENSP00000244137.5:p.Ala477=
ENST00000397032.8:c.1308A>T	ENSP00000380226.3:p.Ala436=
ENST00000436370.7:c.1239A>T	ENSP00000391890.2:p.Ala413=
ENST00000589598.5:n.156A>T
ENST00000591968.1:n.503A>T
ENST00000593085.1:n.1318A>T
NM_000285.3:c.1431A>T	NP_000276.2:p.Ala477=
NM_001166056.1:c.1308A>T	NP_001159528.1:p.Ala436=
NM_001166057.1:c.1239A>T	NP_001159529.1:p.Ala413=
NM_000285.4:c.1431A>T MANE Select	NP_000276.2:p.Ala477=
NM_001166056.2:c.1308A>T	NP_001159528.1:p.Ala436=
NM_001166057.2:c.1239A>T	NP_001159529.1:p.Ala413=