Canonical Allele Identifier: CA9363875

Gene: PEPD

Linked Data

• dbSNP Id: rs749007919
• ExAC: 19:33878365 A / G
• gnomAD v2: 19-33878365-A-G
• gnomAD v4: 19-33387459-A-G
• MyVariant Identifiers: chr19:g.33878365A>G (hg19) ; chr19:g.33387459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387459A>G , CM000681.2:g.33387459A>G	GRCh38
NC_000019.9:g.33878365A>G , CM000681.1:g.33878365A>G	GRCh37
NC_000019.8:g.38570205A>G	NCBI36
NG_013358.1:g.139435T>C
NG_013358.2:g.139435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1433T>C	ENSP00000468516.4:p.Val478Ala
ENST00000651901.2:c.1457T>C	ENSP00000498922.2:p.Val486Ala
ENST00000698359.1:c.1322T>C	ENSP00000513682.1:p.Val441Ala
ENST00000698360.1:c.1418T>C	ENSP00000513683.1:p.Val473Ala
ENST00000698361.1:c.1483T>C	ENSP00000513684.1:p.Trp495Arg
ENST00000698362.1:c.*504T>C	ENSP00000513685.1:n.*504T>C
ENST00000698426.1:c.1046T>C	ENSP00000513713.1:p.Val349Ala
ENST00000698427.1:c.1409T>C	ENSP00000513714.1:p.Val470Ala
ENST00000698428.1:c.1046T>C	ENSP00000513715.1:p.Val349Ala
ENST00000698429.1:n.1250T>C
ENST00000698430.1:c.1617T>C
ENST00000698431.1:c.1104T>C	ENSP00000513717.1:n.1104T>C
ENST00000698432.1:c.1176T>C
ENST00000698433.1:n.829T>C
ENST00000244137.12:c.1367T>C MANE Select	ENSP00000244137.5:p.Val456Ala
ENST00000588328.6:c.1422T>C
ENST00000651901.1:c.1453T>C
ENST00000244137.11:c.1367T>C	ENSP00000244137.5:p.Val456Ala
ENST00000397032.8:c.1244T>C	ENSP00000380226.3:p.Val415Ala
ENST00000436370.7:c.1175T>C	ENSP00000391890.2:p.Val392Ala
ENST00000589598.5:n.92T>C
ENST00000591968.1:n.439T>C
ENST00000593085.1:n.1254T>C
NM_000285.3:c.1367T>C	NP_000276.2:p.Val456Ala
NM_001166056.1:c.1244T>C	NP_001159528.1:p.Val415Ala
NM_001166057.1:c.1175T>C	NP_001159529.1:p.Val392Ala
NM_000285.4:c.1367T>C MANE Select	NP_000276.2:p.Val456Ala
NM_001166056.2:c.1244T>C	NP_001159528.1:p.Val415Ala
NM_001166057.2:c.1175T>C	NP_001159529.1:p.Val392Ala