Canonical Allele Identifier: CA9364023

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328802
• ClinVar RCV Id: RCV000300960 ; RCV001850752 ; RCV002521206
• dbSNP Id: rs765974570
• ExAC: 19:33882308 C / T
• gnomAD v2: 19-33882308-C-T
• gnomAD v3: 19-33391402-C-T
• gnomAD v4: 19-33391402-C-T
• MyVariant Identifiers: chr19:g.33882308C>T (hg19) ; chr19:g.33391402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33391402C>T , CM000681.2:g.33391402C>T	GRCh38
NC_000019.9:g.33882308C>T , CM000681.1:g.33882308C>T	GRCh37
NC_000019.8:g.38574148C>T	NCBI36
NG_013358.1:g.135492G>A
NG_013358.2:g.135492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1111G>A	ENSP00000468516.4:p.Gly371Ser
ENST00000651901.2:c.1045G>A	ENSP00000498922.2:p.Gly349Ser
ENST00000698359.1:c.1000G>A	ENSP00000513682.1:p.Gly334Ser
ENST00000698360.1:c.1096G>A	ENSP00000513683.1:p.Gly366Ser
ENST00000698361.1:c.1045G>A	ENSP00000513684.1:p.Gly349Ser
ENST00000698362.1:c.968-3321G>A	ENSP00000513685.1:n.968-3321G>A
ENST00000698426.1:c.724G>A	ENSP00000513713.1:p.Gly242Ser
ENST00000698427.1:c.1087G>A	ENSP00000513714.1:p.Gly363Ser
ENST00000698428.1:c.724G>A	ENSP00000513715.1:p.Gly242Ser
ENST00000698429.1:n.928G>A
ENST00000698430.1:c.1295G>A
ENST00000698431.1:c.782G>A	ENSP00000513717.1:n.782G>A
ENST00000698432.1:c.854G>A
ENST00000698433.1:n.507G>A
ENST00000698434.1:n.532G>A
ENST00000244137.12:c.1045G>A MANE Select	ENSP00000244137.5:p.Gly349Ser
ENST00000588328.6:c.1100G>A
ENST00000590731.6:n.720G>A
ENST00000651901.1:c.1041G>A
ENST00000244137.11:c.1045G>A	ENSP00000244137.5:p.Gly349Ser
ENST00000397032.8:c.922G>A	ENSP00000380226.3:p.Gly308Ser
ENST00000436370.7:c.853G>A	ENSP00000391890.2:p.Gly285Ser
ENST00000591968.1:n.117G>A
NM_000285.3:c.1045G>A	NP_000276.2:p.Gly349Ser
NM_001166056.1:c.922G>A	NP_001159528.1:p.Gly308Ser
NM_001166057.1:c.853G>A	NP_001159529.1:p.Gly285Ser
NM_000285.4:c.1045G>A MANE Select	NP_000276.2:p.Gly349Ser
NM_001166056.2:c.922G>A	NP_001159528.1:p.Gly308Ser
NM_001166057.2:c.853G>A	NP_001159529.1:p.Gly285Ser