Canonical Allele Identifier: CA506686827

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878382G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387476G>A , CM000681.2:g.33387476G>A	GRCh38
NC_000019.9:g.33878382G>A , CM000681.1:g.33878382G>A	GRCh37
NC_000019.8:g.38570222G>A	NCBI36
NG_013358.1:g.139418C>T
NG_013358.2:g.139418C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1416C>T	ENSP00000468516.4:p.Arg472=
ENST00000651901.2:c.1440C>T	ENSP00000498922.2:p.Arg480=
ENST00000698359.1:c.1305C>T	ENSP00000513682.1:p.Arg435=
ENST00000698360.1:c.1401C>T	ENSP00000513683.1:p.Arg467=
ENST00000698361.1:c.1466C>T	ENSP00000513684.1:p.Ala489Val
ENST00000698362.1:c.*487C>T	ENSP00000513685.1:n.*487C>T
ENST00000698426.1:c.1029C>T	ENSP00000513713.1:p.Arg343=
ENST00000698427.1:c.1392C>T	ENSP00000513714.1:p.Arg464=
ENST00000698428.1:c.1029C>T	ENSP00000513715.1:p.Arg343=
ENST00000698429.1:n.1233C>T
ENST00000698430.1:c.1600C>T
ENST00000698431.1:c.1087C>T	ENSP00000513717.1:n.1087C>T
ENST00000698432.1:c.1159C>T
ENST00000698433.1:n.812C>T
ENST00000244137.12:c.1350C>T MANE Select	ENSP00000244137.5:p.Arg450=
ENST00000588328.6:c.1405C>T
ENST00000651901.1:c.1436C>T
ENST00000244137.11:c.1350C>T	ENSP00000244137.5:p.Arg450=
ENST00000397032.8:c.1227C>T	ENSP00000380226.3:p.Arg409=
ENST00000436370.7:c.1158C>T	ENSP00000391890.2:p.Arg386=
ENST00000589598.5:n.75C>T
ENST00000591968.1:n.422C>T
ENST00000593085.1:n.1237C>T
NM_000285.3:c.1350C>T	NP_000276.2:p.Arg450=
NM_001166056.1:c.1227C>T	NP_001159528.1:p.Arg409=
NM_001166057.1:c.1158C>T	NP_001159529.1:p.Arg386=
NM_000285.4:c.1350C>T MANE Select	NP_000276.2:p.Arg450=
NM_001166056.2:c.1227C>T	NP_001159528.1:p.Arg409=
NM_001166057.2:c.1158C>T	NP_001159529.1:p.Arg386=