Canonical Allele Identifier: CA405219719

Gene: PEPD

Linked Data

• dbSNP Id: rs1483808218
• MyVariant Identifiers: chr19:g.33878362A>C (hg19) ; chr19:g.33387456A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387456A>C , CM000681.2:g.33387456A>C	GRCh38
NC_000019.9:g.33878362A>C , CM000681.1:g.33878362A>C	GRCh37
NC_000019.8:g.38570202A>C	NCBI36
NG_013358.1:g.139438T>G
NG_013358.2:g.139438T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1436T>G	ENSP00000468516.4:p.Val479Gly
ENST00000651901.2:c.1460T>G	ENSP00000498922.2:p.Val487Gly
ENST00000698359.1:c.1325T>G	ENSP00000513682.1:p.Val442Gly
ENST00000698360.1:c.1421T>G	ENSP00000513683.1:p.Val474Gly
ENST00000698361.1:c.1486T>G	ENSP00000513684.1:p.Ter496Gly
ENST00000698362.1:c.*507T>G	ENSP00000513685.1:n.*507T>G
ENST00000698426.1:c.1049T>G	ENSP00000513713.1:p.Val350Gly
ENST00000698427.1:c.1412T>G	ENSP00000513714.1:p.Val471Gly
ENST00000698428.1:c.1049T>G	ENSP00000513715.1:p.Val350Gly
ENST00000698429.1:n.1253T>G
ENST00000698430.1:c.1620T>G
ENST00000698431.1:c.1107T>G	ENSP00000513717.1:n.1107T>G
ENST00000698432.1:c.1179T>G
ENST00000698433.1:n.832T>G
ENST00000244137.12:c.1370T>G MANE Select	ENSP00000244137.5:p.Val457Gly
ENST00000588328.6:c.1425T>G
ENST00000651901.1:c.1456T>G
ENST00000244137.11:c.1370T>G	ENSP00000244137.5:p.Val457Gly
ENST00000397032.8:c.1247T>G	ENSP00000380226.3:p.Val416Gly
ENST00000436370.7:c.1178T>G	ENSP00000391890.2:p.Val393Gly
ENST00000589598.5:n.95T>G
ENST00000591968.1:n.442T>G
ENST00000593085.1:n.1257T>G
NM_000285.3:c.1370T>G	NP_000276.2:p.Val457Gly
NM_001166056.1:c.1247T>G	NP_001159528.1:p.Val416Gly
NM_001166057.1:c.1178T>G	NP_001159529.1:p.Val393Gly
NM_000285.4:c.1370T>G MANE Select	NP_000276.2:p.Val457Gly
NM_001166056.2:c.1247T>G	NP_001159528.1:p.Val416Gly
NM_001166057.2:c.1178T>G	NP_001159529.1:p.Val393Gly