Canonical Allele Identifier: CA405219549

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878306C>A (hg19) ; chr19:g.33387400C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387400C>A , CM000681.2:g.33387400C>A	GRCh38
NC_000019.9:g.33878306C>A , CM000681.1:g.33878306C>A	GRCh37
NC_000019.8:g.38570146C>A	NCBI36
NG_013358.1:g.139494G>T
NG_013358.2:g.139494G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1492G>T	ENSP00000468516.4:p.Glu498Ter
ENST00000651901.2:c.1516G>T	ENSP00000498922.2:p.Glu506Ter
ENST00000698359.1:c.1381G>T	ENSP00000513682.1:p.Glu461Ter
ENST00000698360.1:c.1477G>T	ENSP00000513683.1:p.Glu493Ter
ENST00000698361.1:c.*54G>T	ENSP00000513684.1:n.*54G>T
ENST00000698362.1:c.*563G>T	ENSP00000513685.1:n.*563G>T
ENST00000698426.1:c.1105G>T	ENSP00000513713.1:p.Glu369Ter
ENST00000698427.1:c.1468G>T	ENSP00000513714.1:p.Glu490Ter
ENST00000698428.1:c.1105G>T	ENSP00000513715.1:p.Glu369Ter
ENST00000698429.1:n.1309G>T
ENST00000698430.1:c.1676G>T
ENST00000698431.1:c.1163G>T	ENSP00000513717.1:n.1163G>T
ENST00000698432.1:c.1235G>T
ENST00000698433.1:n.888G>T
ENST00000244137.12:c.1426G>T MANE Select	ENSP00000244137.5:p.Glu476Ter
ENST00000588328.6:c.1481G>T
ENST00000651901.1:c.1512G>T
ENST00000244137.11:c.1426G>T	ENSP00000244137.5:p.Glu476Ter
ENST00000397032.8:c.1303G>T	ENSP00000380226.3:p.Glu435Ter
ENST00000436370.7:c.1234G>T	ENSP00000391890.2:p.Glu412Ter
ENST00000589598.5:n.151G>T
ENST00000591968.1:n.498G>T
ENST00000593085.1:n.1313G>T
NM_000285.3:c.1426G>T	NP_000276.2:p.Glu476Ter
NM_001166056.1:c.1303G>T	NP_001159528.1:p.Glu435Ter
NM_001166057.1:c.1234G>T	NP_001159529.1:p.Glu412Ter
NM_000285.4:c.1426G>T MANE Select	NP_000276.2:p.Glu476Ter
NM_001166056.2:c.1303G>T	NP_001159528.1:p.Glu435Ter
NM_001166057.2:c.1234G>T	NP_001159529.1:p.Glu412Ter