Canonical Allele Identifier: CA506686788

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878340C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387434C>G , CM000681.2:g.33387434C>G	GRCh38
NC_000019.9:g.33878340C>G , CM000681.1:g.33878340C>G	GRCh37
NC_000019.8:g.38570180C>G	NCBI36
NG_013358.1:g.139460G>C
NG_013358.2:g.139460G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1458G>C	ENSP00000468516.4:p.Leu486=
ENST00000651901.2:c.1482G>C	ENSP00000498922.2:p.Leu494=
ENST00000698359.1:c.1347G>C	ENSP00000513682.1:p.Leu449=
ENST00000698360.1:c.1443G>C	ENSP00000513683.1:p.Leu481=
ENST00000698361.1:c.*20G>C	ENSP00000513684.1:n.*20G>C
ENST00000698362.1:c.*529G>C	ENSP00000513685.1:n.*529G>C
ENST00000698426.1:c.1071G>C	ENSP00000513713.1:p.Leu357=
ENST00000698427.1:c.1434G>C	ENSP00000513714.1:p.Leu478=
ENST00000698428.1:c.1071G>C	ENSP00000513715.1:p.Leu357=
ENST00000698429.1:n.1275G>C
ENST00000698430.1:c.1642G>C
ENST00000698431.1:c.1129G>C	ENSP00000513717.1:n.1129G>C
ENST00000698432.1:c.1201G>C
ENST00000698433.1:n.854G>C
ENST00000244137.12:c.1392G>C MANE Select	ENSP00000244137.5:p.Leu464=
ENST00000588328.6:c.1447G>C
ENST00000651901.1:c.1478G>C
ENST00000244137.11:c.1392G>C	ENSP00000244137.5:p.Leu464=
ENST00000397032.8:c.1269G>C	ENSP00000380226.3:p.Leu423=
ENST00000436370.7:c.1200G>C	ENSP00000391890.2:p.Leu400=
ENST00000589598.5:n.117G>C
ENST00000591968.1:n.464G>C
ENST00000593085.1:n.1279G>C
NM_000285.3:c.1392G>C	NP_000276.2:p.Leu464=
NM_001166056.1:c.1269G>C	NP_001159528.1:p.Leu423=
NM_001166057.1:c.1200G>C	NP_001159529.1:p.Leu400=
NM_000285.4:c.1392G>C MANE Select	NP_000276.2:p.Leu464=
NM_001166056.2:c.1269G>C	NP_001159528.1:p.Leu423=
NM_001166057.2:c.1200G>C	NP_001159529.1:p.Leu400=