Canonical Allele Identifier: CA405219407

Gene: PEPD

Linked Data

• ClinVar Variation Id: 2073969
• ClinVar RCV Id: RCV002944198
• dbSNP Id: rs1269372983
• gnomAD v2: 19-33878281-T-G
• gnomAD v4: 19-33387375-T-G
• MyVariant Identifiers: chr19:g.33878281T>G (hg19) ; chr19:g.33387375T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387375T>G , CM000681.2:g.33387375T>G	GRCh38
NC_000019.9:g.33878281T>G , CM000681.1:g.33878281T>G	GRCh37
NC_000019.8:g.38570121T>G	NCBI36
NG_013358.1:g.139519A>C
NG_013358.2:g.139519A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1517A>C	ENSP00000468516.4:p.Lys506Thr
ENST00000651901.2:c.1541A>C	ENSP00000498922.2:p.Lys514Thr
ENST00000698359.1:c.1406A>C	ENSP00000513682.1:p.Lys469Thr
ENST00000698360.1:c.1502A>C	ENSP00000513683.1:p.Lys501Thr
ENST00000698361.1:c.*79A>C	ENSP00000513684.1:n.*79A>C
ENST00000698362.1:c.*588A>C	ENSP00000513685.1:n.*588A>C
ENST00000698426.1:c.1130A>C	ENSP00000513713.1:p.Lys377Thr
ENST00000698427.1:c.1493A>C	ENSP00000513714.1:p.Lys498Thr
ENST00000698428.1:c.1130A>C	ENSP00000513715.1:p.Lys377Thr
ENST00000698429.1:n.1334A>C
ENST00000698430.1:c.1701A>C
ENST00000698431.1:c.1188A>C	ENSP00000513717.1:n.1188A>C
ENST00000698432.1:c.1260A>C
ENST00000698433.1:n.913A>C
ENST00000244137.12:c.1451A>C MANE Select	ENSP00000244137.5:p.Lys484Thr
ENST00000588328.6:c.1506A>C
ENST00000651901.1:c.1537A>C
ENST00000244137.11:c.1451A>C	ENSP00000244137.5:p.Lys484Thr
ENST00000397032.8:c.1328A>C	ENSP00000380226.3:p.Lys443Thr
ENST00000436370.7:c.1259A>C	ENSP00000391890.2:p.Lys420Thr
ENST00000589598.5:n.176A>C
ENST00000591968.1:n.523A>C
ENST00000593085.1:n.1338A>C
NM_000285.3:c.1451A>C	NP_000276.2:p.Lys484Thr
NM_001166056.1:c.1328A>C	NP_001159528.1:p.Lys443Thr
NM_001166057.1:c.1259A>C	NP_001159529.1:p.Lys420Thr
NM_000285.4:c.1451A>C MANE Select	NP_000276.2:p.Lys484Thr
NM_001166056.2:c.1328A>C	NP_001159528.1:p.Lys443Thr
NM_001166057.2:c.1259A>C	NP_001159529.1:p.Lys420Thr