Canonical Allele Identifier: CA9363941

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328794
• ClinVar RCV Id: RCV000328676 ; RCV001393146
• dbSNP Id: rs183038027
• ExAC: 19:33878859 C / T
• gnomAD v2: 19-33878859-C-T
• gnomAD v3: 19-33387953-C-T
• gnomAD v4: 19-33387953-C-T
• MyVariant Identifiers: chr19:g.33878859C>T (hg19) ; chr19:g.33387953C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387953C>T , CM000681.2:g.33387953C>T	GRCh38
NC_000019.9:g.33878859C>T , CM000681.1:g.33878859C>T	GRCh37
NC_000019.8:g.38570699C>T	NCBI36
NG_013358.1:g.138941G>A
NG_013358.2:g.138941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1347G>A	ENSP00000468516.4:p.Ala449=
ENST00000651901.2:c.1281G>A	ENSP00000498922.2:p.Ala427=
ENST00000698359.1:c.1236G>A	ENSP00000513682.1:p.Ala412=
ENST00000698360.1:c.1332G>A	ENSP00000513683.1:p.Ala444=
ENST00000698361.1:c.1397G>A	ENSP00000513684.1:p.Arg466Gln
ENST00000698362.1:c.*10G>A	ENSP00000513685.1:n.*10G>A
ENST00000698426.1:c.960G>A	ENSP00000513713.1:p.Ala320=
ENST00000698427.1:c.1323G>A	ENSP00000513714.1:p.Ala441=
ENST00000698428.1:c.960G>A	ENSP00000513715.1:p.Ala320=
ENST00000698429.1:n.1164G>A
ENST00000698430.1:c.1531G>A
ENST00000698431.1:c.1018G>A	ENSP00000513717.1:n.1018G>A
ENST00000698432.1:c.1090G>A
ENST00000698433.1:n.743G>A
ENST00000244137.12:c.1281G>A MANE Select	ENSP00000244137.5:p.Ala427=
ENST00000588328.6:c.1336G>A
ENST00000651901.1:c.1277G>A
ENST00000244137.11:c.1281G>A	ENSP00000244137.5:p.Ala427=
ENST00000397032.8:c.1158G>A	ENSP00000380226.3:p.Ala386=
ENST00000436370.7:c.1089G>A	ENSP00000391890.2:p.Ala363=
ENST00000591968.1:n.353G>A
ENST00000593085.1:n.1168G>A
NM_000285.3:c.1281G>A	NP_000276.2:p.Ala427=
NM_001166056.1:c.1158G>A	NP_001159528.1:p.Ala386=
NM_001166057.1:c.1089G>A	NP_001159529.1:p.Ala363=
NM_000285.4:c.1281G>A MANE Select	NP_000276.2:p.Ala427=
NM_001166056.2:c.1158G>A	NP_001159528.1:p.Ala386=
NM_001166057.2:c.1089G>A	NP_001159529.1:p.Ala363=