Canonical Allele Identifier: CA405219696

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878350C>A (hg19) ; chr19:g.33387444C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387444C>A , CM000681.2:g.33387444C>A	GRCh38
NC_000019.9:g.33878350C>A , CM000681.1:g.33878350C>A	GRCh37
NC_000019.8:g.38570190C>A	NCBI36
NG_013358.1:g.139450G>T
NG_013358.2:g.139450G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1448G>T	ENSP00000468516.4:p.Gly483Val
ENST00000651901.2:c.1472G>T	ENSP00000498922.2:p.Gly491Val
ENST00000698359.1:c.1337G>T	ENSP00000513682.1:p.Gly446Val
ENST00000698360.1:c.1433G>T	ENSP00000513683.1:p.Gly478Val
ENST00000698361.1:c.*10G>T	ENSP00000513684.1:n.*10G>T
ENST00000698362.1:c.*519G>T	ENSP00000513685.1:n.*519G>T
ENST00000698426.1:c.1061G>T	ENSP00000513713.1:p.Gly354Val
ENST00000698427.1:c.1424G>T	ENSP00000513714.1:p.Gly475Val
ENST00000698428.1:c.1061G>T	ENSP00000513715.1:p.Gly354Val
ENST00000698429.1:n.1265G>T
ENST00000698430.1:c.1632G>T
ENST00000698431.1:c.1119G>T	ENSP00000513717.1:n.1119G>T
ENST00000698432.1:c.1191G>T
ENST00000698433.1:n.844G>T
ENST00000244137.12:c.1382G>T MANE Select	ENSP00000244137.5:p.Gly461Val
ENST00000588328.6:c.1437G>T
ENST00000651901.1:c.1468G>T
ENST00000244137.11:c.1382G>T	ENSP00000244137.5:p.Gly461Val
ENST00000397032.8:c.1259G>T	ENSP00000380226.3:p.Gly420Val
ENST00000436370.7:c.1190G>T	ENSP00000391890.2:p.Gly397Val
ENST00000589598.5:n.107G>T
ENST00000591968.1:n.454G>T
ENST00000593085.1:n.1269G>T
NM_000285.3:c.1382G>T	NP_000276.2:p.Gly461Val
NM_001166056.1:c.1259G>T	NP_001159528.1:p.Gly420Val
NM_001166057.1:c.1190G>T	NP_001159529.1:p.Gly397Val
NM_000285.4:c.1382G>T MANE Select	NP_000276.2:p.Gly461Val
NM_001166056.2:c.1259G>T	NP_001159528.1:p.Gly420Val
NM_001166057.2:c.1190G>T	NP_001159529.1:p.Gly397Val