Canonical Allele Identifier: CA405219720

Gene: PEPD

Linked Data

• dbSNP Id: rs1483808218
• gnomAD v2: 19-33878362-A-G
• gnomAD v4: 19-33387456-A-G
• MyVariant Identifiers: chr19:g.33878362A>G (hg19) ; chr19:g.33387456A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1436T>C	ENSP00000468516.4:p.Val479Ala
ENST00000651901.2:c.1460T>C	ENSP00000498922.2:p.Val487Ala
ENST00000698359.1:c.1325T>C	ENSP00000513682.1:p.Val442Ala
ENST00000698360.1:c.1421T>C	ENSP00000513683.1:p.Val474Ala
ENST00000698361.1:c.1486T>C	ENSP00000513684.1:p.Ter496Arg
ENST00000698362.1:c.*507T>C	ENSP00000513685.1:n.*507T>C
ENST00000698426.1:c.1049T>C	ENSP00000513713.1:p.Val350Ala
ENST00000698427.1:c.1412T>C	ENSP00000513714.1:p.Val471Ala
ENST00000698428.1:c.1049T>C	ENSP00000513715.1:p.Val350Ala
ENST00000698429.1:n.1253T>C
ENST00000698430.1:c.1620T>C
ENST00000698431.1:c.1107T>C	ENSP00000513717.1:n.1107T>C
ENST00000698432.1:c.1179T>C
ENST00000698433.1:n.832T>C
ENST00000244137.12:c.1370T>C MANE Select	ENSP00000244137.5:p.Val457Ala
ENST00000588328.6:c.1425T>C
ENST00000651901.1:c.1456T>C
ENST00000244137.11:c.1370T>C	ENSP00000244137.5:p.Val457Ala
ENST00000397032.8:c.1247T>C	ENSP00000380226.3:p.Val416Ala
ENST00000436370.7:c.1178T>C	ENSP00000391890.2:p.Val393Ala
ENST00000589598.5:n.95T>C
ENST00000591968.1:n.442T>C
ENST00000593085.1:n.1257T>C
NM_000285.3:c.1370T>C	NP_000276.2:p.Val457Ala
NM_001166056.1:c.1247T>C	NP_001159528.1:p.Val416Ala
NM_001166057.1:c.1178T>C	NP_001159529.1:p.Val393Ala
NM_000285.4:c.1370T>C MANE Select	NP_000276.2:p.Val457Ala
NM_001166056.2:c.1247T>C	NP_001159528.1:p.Val416Ala
NM_001166057.2:c.1178T>C	NP_001159529.1:p.Val393Ala