Canonical Allele Identifier: CA9364076

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1397018
• ClinVar RCV Id: RCV001903293
• dbSNP Id: rs1063319
• ExAC: 19:33892662 C / T
• gnomAD v2: 19-33892662-C-T
• gnomAD v3: 19-33401756-C-T
• gnomAD v4: 19-33401756-C-T
• COSMIC: COSM1392689
• MyVariant Identifiers: chr19:g.33892662C>T (hg19) ; chr19:g.33401756C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401756C>T , CM000681.2:g.33401756C>T	GRCh38
NC_000019.9:g.33892662C>T , CM000681.1:g.33892662C>T	GRCh37
NC_000019.8:g.38584502C>T	NCBI36
NG_013358.1:g.125138G>A
NG_013358.2:g.125138G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.932G>A	ENSP00000468516.4:p.Arg311Gln
ENST00000651901.2:c.932G>A	ENSP00000498922.2:p.Arg311Gln
ENST00000698359.1:c.887G>A	ENSP00000513682.1:p.Arg296Gln
ENST00000698360.1:c.983G>A	ENSP00000513683.1:p.Arg328Gln
ENST00000698361.1:c.932G>A	ENSP00000513684.1:p.Arg311Gln
ENST00000698362.1:c.932G>A	ENSP00000513685.1:p.Arg311Gln
ENST00000698363.1:n.995G>A
ENST00000698364.1:n.995G>A
ENST00000698365.1:n.995G>A
ENST00000698426.1:c.611G>A	ENSP00000513713.1:p.Arg204Gln
ENST00000698427.1:c.974G>A	ENSP00000513714.1:p.Arg325Gln
ENST00000698428.1:c.611G>A	ENSP00000513715.1:p.Arg204Gln
ENST00000698429.1:n.815G>A
ENST00000698430.1:c.1182G>A
ENST00000698431.1:c.669G>A	ENSP00000513717.1:n.669G>A
ENST00000698432.1:c.741G>A
ENST00000698433.1:n.394G>A
ENST00000698434.1:n.419G>A
ENST00000244137.12:c.932G>A MANE Select	ENSP00000244137.5:p.Arg311Gln
ENST00000588328.6:c.921G>A
ENST00000590731.6:n.607G>A
ENST00000651901.1:c.928G>A
ENST00000244137.11:c.932G>A	ENSP00000244137.5:p.Arg311Gln
ENST00000397032.8:c.809G>A	ENSP00000380226.3:p.Arg270Gln
ENST00000436370.7:c.740G>A	ENSP00000391890.2:p.Arg247Gln
ENST00000588328.5:c.423G>A
NM_000285.3:c.932G>A	NP_000276.2:p.Arg311Gln
NM_001166056.1:c.809G>A	NP_001159528.1:p.Arg270Gln
NM_001166057.1:c.740G>A	NP_001159529.1:p.Arg247Gln
NM_000285.4:c.932G>A MANE Select	NP_000276.2:p.Arg311Gln
NM_001166056.2:c.809G>A	NP_001159528.1:p.Arg270Gln
NM_001166057.2:c.740G>A	NP_001159529.1:p.Arg247Gln