Canonical Allele Identifier: CA9363853

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1410423
• ClinVar RCV Id: RCV001916438 ; RCV002557637
• dbSNP Id: rs781570190
• ExAC: 19:33878278 G / T
• gnomAD v2: 19-33878278-G-T
• gnomAD v3: 19-33387372-G-T
• gnomAD v4: 19-33387372-G-T
• MyVariant Identifiers: chr19:g.33878278G>T (hg19) ; chr19:g.33387372G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387372G>T , CM000681.2:g.33387372G>T	GRCh38
NC_000019.9:g.33878278G>T , CM000681.1:g.33878278G>T	GRCh37
NC_000019.8:g.38570118G>T	NCBI36
NG_013358.1:g.139522C>A
NG_013358.2:g.139522C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1520C>A	ENSP00000468516.4:p.Ala507Asp
ENST00000651901.2:c.1544C>A	ENSP00000498922.2:p.Ala515Asp
ENST00000698359.1:c.1409C>A	ENSP00000513682.1:p.Ala470Asp
ENST00000698360.1:c.1505C>A	ENSP00000513683.1:p.Ala502Asp
ENST00000698361.1:c.*82C>A	ENSP00000513684.1:n.*82C>A
ENST00000698362.1:c.*591C>A	ENSP00000513685.1:n.*591C>A
ENST00000698426.1:c.1133C>A	ENSP00000513713.1:p.Ala378Asp
ENST00000698427.1:c.1496C>A	ENSP00000513714.1:p.Ala499Asp
ENST00000698428.1:c.1133C>A	ENSP00000513715.1:p.Ala378Asp
ENST00000698429.1:n.1337C>A
ENST00000698430.1:c.1704C>A
ENST00000698431.1:c.1191C>A	ENSP00000513717.1:n.1191C>A
ENST00000698432.1:c.1263C>A
ENST00000698433.1:n.916C>A
ENST00000244137.12:c.1454C>A MANE Select	ENSP00000244137.5:p.Ala485Asp
ENST00000588328.6:c.1509C>A
ENST00000651901.1:c.1540C>A
ENST00000244137.11:c.1454C>A	ENSP00000244137.5:p.Ala485Asp
ENST00000397032.8:c.1331C>A	ENSP00000380226.3:p.Ala444Asp
ENST00000436370.7:c.1262C>A	ENSP00000391890.2:p.Ala421Asp
ENST00000589598.5:n.179C>A
ENST00000591968.1:n.526C>A
ENST00000593085.1:n.1341C>A
NM_000285.3:c.1454C>A	NP_000276.2:p.Ala485Asp
NM_001166056.1:c.1331C>A	NP_001159528.1:p.Ala444Asp
NM_001166057.1:c.1262C>A	NP_001159529.1:p.Ala421Asp
NM_000285.4:c.1454C>A MANE Select	NP_000276.2:p.Ala485Asp
NM_001166056.2:c.1331C>A	NP_001159528.1:p.Ala444Asp
NM_001166057.2:c.1262C>A	NP_001159529.1:p.Ala421Asp