Canonical Allele Identifier: CA405219668

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878336T>A (hg19) ; chr19:g.33387430T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387430T>A , CM000681.2:g.33387430T>A	GRCh38
NC_000019.9:g.33878336T>A , CM000681.1:g.33878336T>A	GRCh37
NC_000019.8:g.38570176T>A	NCBI36
NG_013358.1:g.139464A>T
NG_013358.2:g.139464A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1462A>T	ENSP00000468516.4:p.Thr488Ser
ENST00000651901.2:c.1486A>T	ENSP00000498922.2:p.Thr496Ser
ENST00000698359.1:c.1351A>T	ENSP00000513682.1:p.Thr451Ser
ENST00000698360.1:c.1447A>T	ENSP00000513683.1:p.Thr483Ser
ENST00000698361.1:c.*24A>T	ENSP00000513684.1:n.*24A>T
ENST00000698362.1:c.*533A>T	ENSP00000513685.1:n.*533A>T
ENST00000698426.1:c.1075A>T	ENSP00000513713.1:p.Thr359Ser
ENST00000698427.1:c.1438A>T	ENSP00000513714.1:p.Thr480Ser
ENST00000698428.1:c.1075A>T	ENSP00000513715.1:p.Thr359Ser
ENST00000698429.1:n.1279A>T
ENST00000698430.1:c.1646A>T
ENST00000698431.1:c.1133A>T	ENSP00000513717.1:n.1133A>T
ENST00000698432.1:c.1205A>T
ENST00000698433.1:n.858A>T
ENST00000244137.12:c.1396A>T MANE Select	ENSP00000244137.5:p.Thr466Ser
ENST00000588328.6:c.1451A>T
ENST00000651901.1:c.1482A>T
ENST00000244137.11:c.1396A>T	ENSP00000244137.5:p.Thr466Ser
ENST00000397032.8:c.1273A>T	ENSP00000380226.3:p.Thr425Ser
ENST00000436370.7:c.1204A>T	ENSP00000391890.2:p.Thr402Ser
ENST00000589598.5:n.121A>T
ENST00000591968.1:n.468A>T
ENST00000593085.1:n.1283A>T
NM_000285.3:c.1396A>T	NP_000276.2:p.Thr466Ser
NM_001166056.1:c.1273A>T	NP_001159528.1:p.Thr425Ser
NM_001166057.1:c.1204A>T	NP_001159529.1:p.Thr402Ser
NM_000285.4:c.1396A>T MANE Select	NP_000276.2:p.Thr466Ser
NM_001166056.2:c.1273A>T	NP_001159528.1:p.Thr425Ser
NM_001166057.2:c.1204A>T	NP_001159529.1:p.Thr402Ser