Canonical Allele Identifier: CA405234639

Gene: PEPD

Linked Data

• ClinVar Variation Id: 3013195
• ClinVar RCV Id: RCV003870290
• dbSNP Id: rs1343296636
• gnomAD v4: 19-33521742-A-C
• MyVariant Identifiers: chr19:g.34012648A>C (hg19) ; chr19:g.33521742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521742A>C , CM000681.2:g.33521742A>C	GRCh38
NC_000019.9:g.34012648A>C , CM000681.1:g.34012648A>C	GRCh37
NC_000019.8:g.38704488A>C	NCBI36
NG_013358.1:g.5152T>G
NG_013358.2:g.5152T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.17+2T>G	ENSP00000468516.4:n.17+2T>G
ENST00000651646.2:c.17+2T>G	ENSP00000498950.2:n.17+2T>G
ENST00000651901.2:c.17+2T>G	ENSP00000498922.2:n.17+2T>G
ENST00000698359.1:c.17+2T>G	ENSP00000513682.1:n.17+2T>G
ENST00000698360.1:c.17+2T>G	ENSP00000513683.1:n.17+2T>G
ENST00000698361.1:c.17+2T>G	ENSP00000513684.1:n.17+2T>G
ENST00000698362.1:c.17+2T>G	ENSP00000513685.1:n.17+2T>G
ENST00000698363.1:n.80+2T>G
ENST00000698364.1:n.80+2T>G
ENST00000698365.1:n.80+2T>G
ENST00000698426.1:c.-499+2T>G	ENSP00000513713.1:n.-499+2T>G
ENST00000698427.1:c.-47T>G	ENSP00000513714.1:n.-47T>G
ENST00000698428.1:c.-375T>G	ENSP00000513715.1:n.-375T>G
ENST00000698435.1:c.17+2T>G	ENSP00000513719.1:n.17+2T>G
ENST00000698436.1:c.17+2T>G	ENSP00000513720.1:n.17+2T>G
ENST00000244137.12:c.17+2T>G MANE Select	ENSP00000244137.5:n.17+2T>G
ENST00000588328.6:c.6+2T>G
ENST00000651646.1:c.15+2T>G
ENST00000651901.1:c.13+2T>G
ENST00000244137.11:c.17+2T>G	ENSP00000244137.5:n.17+2T>G
ENST00000397032.8:c.17+2T>G	ENSP00000380226.3:n.17+2T>G
ENST00000436370.7:c.17+2T>G	ENSP00000391890.2:n.17+2T>G
NM_000285.3:c.17+2T>G	NP_000276.2:n.17+2T>G
NM_001166056.1:c.17+2T>G	NP_001159528.1:n.17+2T>G
NM_001166057.1:c.17+2T>G	NP_001159529.1:n.17+2T>G
NM_000285.4:c.17+2T>G MANE Select	NP_000276.2:n.17+2T>G
NM_001166056.2:c.17+2T>G	NP_001159528.1:n.17+2T>G
NM_001166057.2:c.17+2T>G	NP_001159529.1:n.17+2T>G