Canonical Allele Identifier: CA405219526

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878302G>A (hg19) ; chr19:g.33387396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387396G>A , CM000681.2:g.33387396G>A	GRCh38
NC_000019.9:g.33878302G>A , CM000681.1:g.33878302G>A	GRCh37
NC_000019.8:g.38570142G>A	NCBI36
NG_013358.1:g.139498C>T
NG_013358.2:g.139498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1496C>T	ENSP00000468516.4:p.Ala499Val
ENST00000651901.2:c.1520C>T	ENSP00000498922.2:p.Ala507Val
ENST00000698359.1:c.1385C>T	ENSP00000513682.1:p.Ala462Val
ENST00000698360.1:c.1481C>T	ENSP00000513683.1:p.Ala494Val
ENST00000698361.1:c.*58C>T	ENSP00000513684.1:n.*58C>T
ENST00000698362.1:c.*567C>T	ENSP00000513685.1:n.*567C>T
ENST00000698426.1:c.1109C>T	ENSP00000513713.1:p.Ala370Val
ENST00000698427.1:c.1472C>T	ENSP00000513714.1:p.Ala491Val
ENST00000698428.1:c.1109C>T	ENSP00000513715.1:p.Ala370Val
ENST00000698429.1:n.1313C>T
ENST00000698430.1:c.1680C>T
ENST00000698431.1:c.1167C>T	ENSP00000513717.1:n.1167C>T
ENST00000698432.1:c.1239C>T
ENST00000698433.1:n.892C>T
ENST00000244137.12:c.1430C>T MANE Select	ENSP00000244137.5:p.Ala477Val
ENST00000588328.6:c.1485C>T
ENST00000651901.1:c.1516C>T
ENST00000244137.11:c.1430C>T	ENSP00000244137.5:p.Ala477Val
ENST00000397032.8:c.1307C>T	ENSP00000380226.3:p.Ala436Val
ENST00000436370.7:c.1238C>T	ENSP00000391890.2:p.Ala413Val
ENST00000589598.5:n.155C>T
ENST00000591968.1:n.502C>T
ENST00000593085.1:n.1317C>T
NM_000285.3:c.1430C>T	NP_000276.2:p.Ala477Val
NM_001166056.1:c.1307C>T	NP_001159528.1:p.Ala436Val
NM_001166057.1:c.1238C>T	NP_001159529.1:p.Ala413Val
NM_000285.4:c.1430C>T MANE Select	NP_000276.2:p.Ala477Val
NM_001166056.2:c.1307C>T	NP_001159528.1:p.Ala436Val
NM_001166057.2:c.1238C>T	NP_001159529.1:p.Ala413Val