Canonical Allele Identifier: CA405219747

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878375C>T (hg19) ; chr19:g.33387469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387469C>T , CM000681.2:g.33387469C>T	GRCh38
NC_000019.9:g.33878375C>T , CM000681.1:g.33878375C>T	GRCh37
NC_000019.8:g.38570215C>T	NCBI36
NG_013358.1:g.139425G>A
NG_013358.2:g.139425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1423G>A	ENSP00000468516.4:p.Glu475Lys
ENST00000651901.2:c.1447G>A	ENSP00000498922.2:p.Glu483Lys
ENST00000698359.1:c.1312G>A	ENSP00000513682.1:p.Glu438Lys
ENST00000698360.1:c.1408G>A	ENSP00000513683.1:p.Glu470Lys
ENST00000698361.1:c.1473G>A	ENSP00000513684.1:p.Arg491=
ENST00000698362.1:c.*494G>A	ENSP00000513685.1:n.*494G>A
ENST00000698426.1:c.1036G>A	ENSP00000513713.1:p.Glu346Lys
ENST00000698427.1:c.1399G>A	ENSP00000513714.1:p.Glu467Lys
ENST00000698428.1:c.1036G>A	ENSP00000513715.1:p.Glu346Lys
ENST00000698429.1:n.1240G>A
ENST00000698430.1:c.1607G>A
ENST00000698431.1:c.1094G>A	ENSP00000513717.1:n.1094G>A
ENST00000698432.1:c.1166G>A
ENST00000698433.1:n.819G>A
ENST00000244137.12:c.1357G>A MANE Select	ENSP00000244137.5:p.Glu453Lys
ENST00000588328.6:c.1412G>A
ENST00000651901.1:c.1443G>A
ENST00000244137.11:c.1357G>A	ENSP00000244137.5:p.Glu453Lys
ENST00000397032.8:c.1234G>A	ENSP00000380226.3:p.Glu412Lys
ENST00000436370.7:c.1165G>A	ENSP00000391890.2:p.Glu389Lys
ENST00000589598.5:n.82G>A
ENST00000591968.1:n.429G>A
ENST00000593085.1:n.1244G>A
NM_000285.3:c.1357G>A	NP_000276.2:p.Glu453Lys
NM_001166056.1:c.1234G>A	NP_001159528.1:p.Glu412Lys
NM_001166057.1:c.1165G>A	NP_001159529.1:p.Glu389Lys
NM_000285.4:c.1357G>A MANE Select	NP_000276.2:p.Glu453Lys
NM_001166056.2:c.1234G>A	NP_001159528.1:p.Glu412Lys
NM_001166057.2:c.1165G>A	NP_001159529.1:p.Glu389Lys