Canonical Allele Identifier: CA9363864

Gene: PEPD

Linked Data

• dbSNP Id: rs759764278
• ExAC: 19:33878320 G / A
• gnomAD v2: 19-33878320-G-A
• gnomAD v4: 19-33387414-G-A
• MyVariant Identifiers: chr19:g.33878320G>A (hg19) ; chr19:g.33387414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387414G>A , CM000681.2:g.33387414G>A	GRCh38
NC_000019.9:g.33878320G>A , CM000681.1:g.33878320G>A	GRCh37
NC_000019.8:g.38570160G>A	NCBI36
NG_013358.1:g.139480C>T
NG_013358.2:g.139480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1478C>T	ENSP00000468516.4:p.Thr493Ile
ENST00000651901.2:c.1502C>T	ENSP00000498922.2:p.Thr501Ile
ENST00000698359.1:c.1367C>T	ENSP00000513682.1:p.Thr456Ile
ENST00000698360.1:c.1463C>T	ENSP00000513683.1:p.Thr488Ile
ENST00000698361.1:c.*40C>T	ENSP00000513684.1:n.*40C>T
ENST00000698362.1:c.*549C>T	ENSP00000513685.1:n.*549C>T
ENST00000698426.1:c.1091C>T	ENSP00000513713.1:p.Thr364Ile
ENST00000698427.1:c.1454C>T	ENSP00000513714.1:p.Thr485Ile
ENST00000698428.1:c.1091C>T	ENSP00000513715.1:p.Thr364Ile
ENST00000698429.1:n.1295C>T
ENST00000698430.1:c.1662C>T
ENST00000698431.1:c.1149C>T	ENSP00000513717.1:n.1149C>T
ENST00000698432.1:c.1221C>T
ENST00000698433.1:n.874C>T
ENST00000244137.12:c.1412C>T MANE Select	ENSP00000244137.5:p.Thr471Ile
ENST00000588328.6:c.1467C>T
ENST00000651901.1:c.1498C>T
ENST00000244137.11:c.1412C>T	ENSP00000244137.5:p.Thr471Ile
ENST00000397032.8:c.1289C>T	ENSP00000380226.3:p.Thr430Ile
ENST00000436370.7:c.1220C>T	ENSP00000391890.2:p.Thr407Ile
ENST00000589598.5:n.137C>T
ENST00000591968.1:n.484C>T
ENST00000593085.1:n.1299C>T
NM_000285.3:c.1412C>T	NP_000276.2:p.Thr471Ile
NM_001166056.1:c.1289C>T	NP_001159528.1:p.Thr430Ile
NM_001166057.1:c.1220C>T	NP_001159529.1:p.Thr407Ile
NM_000285.4:c.1412C>T MANE Select	NP_000276.2:p.Thr471Ile
NM_001166056.2:c.1289C>T	NP_001159528.1:p.Thr430Ile
NM_001166057.2:c.1220C>T	NP_001159529.1:p.Thr407Ile