Canonical Allele Identifier: CA405219670

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387430-T-G
• MyVariant Identifiers: chr19:g.33878336T>G (hg19) ; chr19:g.33387430T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1462A>C	ENSP00000468516.4:p.Thr488Pro
ENST00000651901.2:c.1486A>C	ENSP00000498922.2:p.Thr496Pro
ENST00000698359.1:c.1351A>C	ENSP00000513682.1:p.Thr451Pro
ENST00000698360.1:c.1447A>C	ENSP00000513683.1:p.Thr483Pro
ENST00000698361.1:c.*24A>C	ENSP00000513684.1:n.*24A>C
ENST00000698362.1:c.*533A>C	ENSP00000513685.1:n.*533A>C
ENST00000698426.1:c.1075A>C	ENSP00000513713.1:p.Thr359Pro
ENST00000698427.1:c.1438A>C	ENSP00000513714.1:p.Thr480Pro
ENST00000698428.1:c.1075A>C	ENSP00000513715.1:p.Thr359Pro
ENST00000698429.1:n.1279A>C
ENST00000698430.1:c.1646A>C
ENST00000698431.1:c.1133A>C	ENSP00000513717.1:n.1133A>C
ENST00000698432.1:c.1205A>C
ENST00000698433.1:n.858A>C
ENST00000244137.12:c.1396A>C MANE Select	ENSP00000244137.5:p.Thr466Pro
ENST00000588328.6:c.1451A>C
ENST00000651901.1:c.1482A>C
ENST00000244137.11:c.1396A>C	ENSP00000244137.5:p.Thr466Pro
ENST00000397032.8:c.1273A>C	ENSP00000380226.3:p.Thr425Pro
ENST00000436370.7:c.1204A>C	ENSP00000391890.2:p.Thr402Pro
ENST00000589598.5:n.121A>C
ENST00000591968.1:n.468A>C
ENST00000593085.1:n.1283A>C
NM_000285.3:c.1396A>C	NP_000276.2:p.Thr466Pro
NM_001166056.1:c.1273A>C	NP_001159528.1:p.Thr425Pro
NM_001166057.1:c.1204A>C	NP_001159529.1:p.Thr402Pro
NM_000285.4:c.1396A>C MANE Select	NP_000276.2:p.Thr466Pro
NM_001166056.2:c.1273A>C	NP_001159528.1:p.Thr425Pro
NM_001166057.2:c.1204A>C	NP_001159529.1:p.Thr402Pro