Canonical Allele Identifier: CA405220127

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878798C>G (hg19) ; chr19:g.33387892C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387892C>G , CM000681.2:g.33387892C>G	GRCh38
NC_000019.9:g.33878798C>G , CM000681.1:g.33878798C>G	GRCh37
NC_000019.8:g.38570638C>G	NCBI36
NG_013358.1:g.139002G>C
NG_013358.2:g.139002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1408G>C	ENSP00000468516.4:p.Gly470Arg
ENST00000651901.2:c.1342G>C	ENSP00000498922.2:p.Gly448Arg
ENST00000698359.1:c.1297G>C	ENSP00000513682.1:p.Gly433Arg
ENST00000698360.1:c.1393G>C	ENSP00000513683.1:p.Gly465Arg
ENST00000698361.1:c.1458G>C	ENSP00000513684.1:p.Ala486=
ENST00000698362.1:c.*71G>C	ENSP00000513685.1:n.*71G>C
ENST00000698426.1:c.1021G>C	ENSP00000513713.1:p.Gly341Arg
ENST00000698427.1:c.1384G>C	ENSP00000513714.1:p.Gly462Arg
ENST00000698428.1:c.1021G>C	ENSP00000513715.1:p.Gly341Arg
ENST00000698429.1:n.1225G>C
ENST00000698430.1:c.1592G>C
ENST00000698431.1:c.1079G>C	ENSP00000513717.1:n.1079G>C
ENST00000698432.1:c.1151G>C
ENST00000698433.1:n.804G>C
ENST00000244137.12:c.1342G>C MANE Select	ENSP00000244137.5:p.Gly448Arg
ENST00000588328.6:c.1397G>C
ENST00000651901.1:c.1338G>C
ENST00000244137.11:c.1342G>C	ENSP00000244137.5:p.Gly448Arg
ENST00000397032.8:c.1219G>C	ENSP00000380226.3:p.Gly407Arg
ENST00000436370.7:c.1150G>C	ENSP00000391890.2:p.Gly384Arg
ENST00000591968.1:n.414G>C
ENST00000593085.1:n.1229G>C
NM_000285.3:c.1342G>C	NP_000276.2:p.Gly448Arg
NM_001166056.1:c.1219G>C	NP_001159528.1:p.Gly407Arg
NM_001166057.1:c.1150G>C	NP_001159529.1:p.Gly384Arg
NM_000285.4:c.1342G>C MANE Select	NP_000276.2:p.Gly448Arg
NM_001166056.2:c.1219G>C	NP_001159528.1:p.Gly407Arg
NM_001166057.2:c.1150G>C	NP_001159529.1:p.Gly384Arg