Canonical Allele Identifier: CA405219544

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878305T>G (hg19) ; chr19:g.33387399T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387399T>G , CM000681.2:g.33387399T>G	GRCh38
NC_000019.9:g.33878305T>G , CM000681.1:g.33878305T>G	GRCh37
NC_000019.8:g.38570145T>G	NCBI36
NG_013358.1:g.139495A>C
NG_013358.2:g.139495A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1493A>C	ENSP00000468516.4:p.Glu498Ala
ENST00000651901.2:c.1517A>C	ENSP00000498922.2:p.Glu506Ala
ENST00000698359.1:c.1382A>C	ENSP00000513682.1:p.Glu461Ala
ENST00000698360.1:c.1478A>C	ENSP00000513683.1:p.Glu493Ala
ENST00000698361.1:c.*55A>C	ENSP00000513684.1:n.*55A>C
ENST00000698362.1:c.*564A>C	ENSP00000513685.1:n.*564A>C
ENST00000698426.1:c.1106A>C	ENSP00000513713.1:p.Glu369Ala
ENST00000698427.1:c.1469A>C	ENSP00000513714.1:p.Glu490Ala
ENST00000698428.1:c.1106A>C	ENSP00000513715.1:p.Glu369Ala
ENST00000698429.1:n.1310A>C
ENST00000698430.1:c.1677A>C
ENST00000698431.1:c.1164A>C	ENSP00000513717.1:n.1164A>C
ENST00000698432.1:c.1236A>C
ENST00000698433.1:n.889A>C
ENST00000244137.12:c.1427A>C MANE Select	ENSP00000244137.5:p.Glu476Ala
ENST00000588328.6:c.1482A>C
ENST00000651901.1:c.1513A>C
ENST00000244137.11:c.1427A>C	ENSP00000244137.5:p.Glu476Ala
ENST00000397032.8:c.1304A>C	ENSP00000380226.3:p.Glu435Ala
ENST00000436370.7:c.1235A>C	ENSP00000391890.2:p.Glu412Ala
ENST00000589598.5:n.152A>C
ENST00000591968.1:n.499A>C
ENST00000593085.1:n.1314A>C
NM_000285.3:c.1427A>C	NP_000276.2:p.Glu476Ala
NM_001166056.1:c.1304A>C	NP_001159528.1:p.Glu435Ala
NM_001166057.1:c.1235A>C	NP_001159529.1:p.Glu412Ala
NM_000285.4:c.1427A>C MANE Select	NP_000276.2:p.Glu476Ala
NM_001166056.2:c.1304A>C	NP_001159528.1:p.Glu435Ala
NM_001166057.2:c.1235A>C	NP_001159529.1:p.Glu412Ala