Canonical Allele Identifier: CA10651744

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328781
• ClinVar RCV Id: RCV000405281 ; RCV001653598 ; RCV003401344
• dbSNP Id: rs1061338
• gnomAD v2: 19-33878198-A-G
• gnomAD v3: 19-33387292-A-G
• gnomAD v4: 19-33387292-A-G
• MyVariant Identifiers: chr19:g.33878198A>G (hg19) ; chr19:g.33387292A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387292A>G , CM000681.2:g.33387292A>G	GRCh38
NC_000019.9:g.33878198A>G , CM000681.1:g.33878198A>G	GRCh37
NC_000019.8:g.38570038A>G	NCBI36
NG_013358.1:g.139602T>C
NG_013358.2:g.139602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*52T>C	ENSP00000468516.4:n.*52T>C
ENST00000651901.2:c.*52T>C	ENSP00000498922.2:n.*52T>C
ENST00000698359.1:c.*52T>C	ENSP00000513682.1:n.*52T>C
ENST00000698360.1:c.*52T>C	ENSP00000513683.1:n.*52T>C
ENST00000698361.1:c.*162T>C	ENSP00000513684.1:n.*162T>C
ENST00000698362.1:c.*671T>C	ENSP00000513685.1:n.*671T>C
ENST00000698426.1:c.*52T>C	ENSP00000513713.1:n.*52T>C
ENST00000698427.1:c.*52T>C	ENSP00000513714.1:n.*52T>C
ENST00000698428.1:c.*52T>C	ENSP00000513715.1:n.*52T>C
ENST00000698429.1:n.1417T>C
ENST00000698430.1:c.1784T>C
ENST00000698431.1:c.1271T>C	ENSP00000513717.1:n.1271T>C
ENST00000698432.1:c.1343T>C
ENST00000244137.12:c.*52T>C MANE Select	ENSP00000244137.5:n.*52T>C
ENST00000588328.6:c.1589T>C
ENST00000651901.1:c.1620T>C
ENST00000244137.11:c.*52T>C	ENSP00000244137.5:n.*52T>C
ENST00000397032.8:c.*52T>C	ENSP00000380226.3:n.*52T>C
ENST00000436370.7:c.*52T>C	ENSP00000391890.2:n.*52T>C
ENST00000589598.5:n.259T>C
ENST00000591968.1:n.606T>C
ENST00000593085.1:n.1421T>C
NM_000285.3:c.*52T>C	NP_000276.2:n.*52T>C
NM_001166056.1:c.*52T>C	NP_001159528.1:n.*52T>C
NM_001166057.1:c.*52T>C	NP_001159529.1:n.*52T>C
NM_000285.4:c.*52T>C MANE Select	NP_000276.2:n.*52T>C
NM_001166056.2:c.*52T>C	NP_001159528.1:n.*52T>C
NM_001166057.2:c.*52T>C	NP_001159529.1:n.*52T>C