Canonical Allele Identifier: CA405219688

Gene: PEPD

Linked Data

• dbSNP Id: rs2145319812
• MyVariant Identifiers: chr19:g.33878346T>C (hg19) ; chr19:g.33387440T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387440T>C , CM000681.2:g.33387440T>C	GRCh38
NC_000019.9:g.33878346T>C , CM000681.1:g.33878346T>C	GRCh37
NC_000019.8:g.38570186T>C	NCBI36
NG_013358.1:g.139454A>G
NG_013358.2:g.139454A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1452A>G	ENSP00000468516.4:p.Ile484Met
ENST00000651901.2:c.1476A>G	ENSP00000498922.2:p.Ile492Met
ENST00000698359.1:c.1341A>G	ENSP00000513682.1:p.Ile447Met
ENST00000698360.1:c.1437A>G	ENSP00000513683.1:p.Ile479Met
ENST00000698361.1:c.*14A>G	ENSP00000513684.1:n.*14A>G
ENST00000698362.1:c.*523A>G	ENSP00000513685.1:n.*523A>G
ENST00000698426.1:c.1065A>G	ENSP00000513713.1:p.Ile355Met
ENST00000698427.1:c.1428A>G	ENSP00000513714.1:p.Ile476Met
ENST00000698428.1:c.1065A>G	ENSP00000513715.1:p.Ile355Met
ENST00000698429.1:n.1269A>G
ENST00000698430.1:c.1636A>G
ENST00000698431.1:c.1123A>G	ENSP00000513717.1:n.1123A>G
ENST00000698432.1:c.1195A>G
ENST00000698433.1:n.848A>G
ENST00000244137.12:c.1386A>G MANE Select	ENSP00000244137.5:p.Ile462Met
ENST00000588328.6:c.1441A>G
ENST00000651901.1:c.1472A>G
ENST00000244137.11:c.1386A>G	ENSP00000244137.5:p.Ile462Met
ENST00000397032.8:c.1263A>G	ENSP00000380226.3:p.Ile421Met
ENST00000436370.7:c.1194A>G	ENSP00000391890.2:p.Ile398Met
ENST00000589598.5:n.111A>G
ENST00000591968.1:n.458A>G
ENST00000593085.1:n.1273A>G
NM_000285.3:c.1386A>G	NP_000276.2:p.Ile462Met
NM_001166056.1:c.1263A>G	NP_001159528.1:p.Ile421Met
NM_001166057.1:c.1194A>G	NP_001159529.1:p.Ile398Met
NM_000285.4:c.1386A>G MANE Select	NP_000276.2:p.Ile462Met
NM_001166056.2:c.1263A>G	NP_001159528.1:p.Ile421Met
NM_001166057.2:c.1194A>G	NP_001159529.1:p.Ile398Met