Canonical Allele Identifier: CA9364547

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1060300
• ClinVar RCV Id: RCV001369711
• dbSNP Id: rs774320647
• ExAC: 19:34012651 C / G
• gnomAD v2: 19-34012651-C-G
• gnomAD v3: 19-33521745-C-G
• gnomAD v4: 19-33521745-C-G
• MyVariant Identifiers: chr19:g.34012651C>G (hg19) ; chr19:g.33521745C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521745C>G , CM000681.2:g.33521745C>G	GRCh38
NC_000019.9:g.34012651C>G , CM000681.1:g.34012651C>G	GRCh37
NC_000019.8:g.38704491C>G	NCBI36
NG_013358.1:g.5149G>C
NG_013358.2:g.5149G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.16G>C	ENSP00000468516.4:p.Gly6Arg
ENST00000651646.2:c.16G>C	ENSP00000498950.2:p.Gly6Arg
ENST00000651901.2:c.16G>C	ENSP00000498922.2:p.Gly6Arg
ENST00000698359.1:c.16G>C	ENSP00000513682.1:p.Gly6Arg
ENST00000698360.1:c.16G>C	ENSP00000513683.1:p.Gly6Arg
ENST00000698361.1:c.16G>C	ENSP00000513684.1:p.Gly6Arg
ENST00000698362.1:c.16G>C	ENSP00000513685.1:p.Gly6Arg
ENST00000698363.1:n.79G>C
ENST00000698364.1:n.79G>C
ENST00000698365.1:n.79G>C
ENST00000698426.1:c.-500G>C	ENSP00000513713.1:n.-500G>C
ENST00000698427.1:c.-50G>C	ENSP00000513714.1:n.-50G>C
ENST00000698428.1:c.-378G>C	ENSP00000513715.1:n.-378G>C
ENST00000698435.1:c.16G>C	ENSP00000513719.1:p.Gly6Arg
ENST00000698436.1:c.16G>C	ENSP00000513720.1:p.Gly6Arg
ENST00000244137.12:c.16G>C MANE Select	ENSP00000244137.5:p.Gly6Arg
ENST00000588328.6:c.5G>C
ENST00000651646.1:c.14G>C
ENST00000651901.1:c.12G>C
ENST00000244137.11:c.16G>C	ENSP00000244137.5:p.Gly6Arg
ENST00000397032.8:c.16G>C	ENSP00000380226.3:p.Gly6Arg
ENST00000436370.7:c.16G>C	ENSP00000391890.2:p.Gly6Arg
NM_000285.3:c.16G>C	NP_000276.2:p.Gly6Arg
NM_001166056.1:c.16G>C	NP_001159528.1:p.Gly6Arg
NM_001166057.1:c.16G>C	NP_001159529.1:p.Gly6Arg
NM_000285.4:c.16G>C MANE Select	NP_000276.2:p.Gly6Arg
NM_001166056.2:c.16G>C	NP_001159528.1:p.Gly6Arg
NM_001166057.2:c.16G>C	NP_001159529.1:p.Gly6Arg