Canonical Allele Identifier: CA347445

Gene: PEPD

Linked Data

• ClinVar Variation Id: 209997
• ClinVar RCV Id: RCV000195145 ; RCV002517036
• dbSNP Id: rs747700126
• gnomAD v4: 19-33463032-C-G
• MyVariant Identifiers: chr19:g.33953938C>G (hg19) ; chr19:g.33463032C>G (hg38)
• PubMed: PMID:19308961 ; PMID:26110198

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33463032C>G , CM000681.2:g.33463032C>G	GRCh38
NC_000019.9:g.33953938C>G , CM000681.1:g.33953938C>G	GRCh37
NC_000019.8:g.38645778C>G	NCBI36
NG_013358.1:g.63862G>C
NG_013358.2:g.63862G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.634G>C	ENSP00000468516.4:p.Ala212Pro
ENST00000651646.2:c.634G>C	ENSP00000498950.2:p.Ala212Pro
ENST00000651901.2:c.634G>C	ENSP00000498922.2:p.Ala212Pro
ENST00000698359.1:c.589G>C	ENSP00000513682.1:p.Ala197Pro
ENST00000698360.1:c.634G>C	ENSP00000513683.1:p.Ala212Pro
ENST00000698361.1:c.634G>C	ENSP00000513684.1:p.Ala212Pro
ENST00000698362.1:c.634G>C	ENSP00000513685.1:p.Ala212Pro
ENST00000698363.1:n.697G>C
ENST00000698364.1:n.697G>C
ENST00000698365.1:n.697G>C
ENST00000698426.1:c.313G>C	ENSP00000513713.1:p.Ala105Pro
ENST00000698427.1:c.676G>C	ENSP00000513714.1:p.Ala226Pro
ENST00000698428.1:c.313G>C	ENSP00000513715.1:p.Ala105Pro
ENST00000698430.1:c.884G>C
ENST00000698431.1:c.371G>C	ENSP00000513717.1:n.371G>C
ENST00000698432.1:c.443G>C
ENST00000698435.1:c.322G>C	ENSP00000513719.1:p.Ala108Pro
ENST00000698436.1:c.*246G>C	ENSP00000513720.1:n.*246G>C
ENST00000698437.1:n.617G>C
ENST00000698438.1:n.616G>C
ENST00000698439.1:c.491G>C	ENSP00000513721.1:n.491G>C
ENST00000244137.12:c.634G>C MANE Select	ENSP00000244137.5:p.Ala212Pro
ENST00000588328.6:c.623G>C
ENST00000590731.6:n.309G>C
ENST00000651646.1:c.632G>C
ENST00000651901.1:c.630G>C
ENST00000244137.11:c.634G>C	ENSP00000244137.5:p.Ala212Pro
ENST00000397032.8:c.548+15014G>C	ENSP00000380226.3:n.548+15014G>C
ENST00000436370.7:c.442G>C	ENSP00000391890.2:p.Ala148Pro
ENST00000588328.5:c.125G>C
ENST00000588719.5:n.269G>C
ENST00000590408.1:c.352G>C
ENST00000590731.5:n.309G>C
ENST00000590755.6:c.461G>C	ENSP00000476667.1:n.461G>C
ENST00000593163.5:n.799G>C
ENST00000609145.5:c.67G>C	ENSP00000476514.1:p.Ala23Pro
NM_000285.3:c.634G>C	NP_000276.2:p.Ala212Pro
NM_001166056.1:c.548+15014G>C	NP_001159528.1:n.548+15014G>C
NM_001166057.1:c.442G>C	NP_001159529.1:p.Ala148Pro
NM_000285.4:c.634G>C MANE Select	NP_000276.2:p.Ala212Pro
NM_001166056.2:c.548+15014G>C	NP_001159528.1:n.548+15014G>C
NM_001166057.2:c.442G>C	NP_001159529.1:p.Ala148Pro