Canonical Allele Identifier: CA307568751

Gene: PEPD

Linked Data

• dbSNP Id: rs1008941838
• gnomAD v2: 19-33878494-C-G
• gnomAD v3: 19-33387588-C-G
• gnomAD v4: 19-33387588-C-G
• MyVariant Identifiers: chr19:g.33878494C>G (hg19) ; chr19:g.33387588C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387588C>G , CM000681.2:g.33387588C>G	GRCh38
NC_000019.9:g.33878494C>G , CM000681.1:g.33878494C>G	GRCh37
NC_000019.8:g.38570334C>G	NCBI36
NG_013358.1:g.139306G>C
NG_013358.2:g.139306G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1411-107G>C	ENSP00000468516.4:n.1411-107G>C
ENST00000651901.2:c.1434+67G>C	ENSP00000498922.2:n.1434+67G>C
ENST00000698359.1:c.1300-107G>C	ENSP00000513682.1:n.1300-107G>C
ENST00000698360.1:c.1396-107G>C	ENSP00000513683.1:n.1396-107G>C
ENST00000698361.1:c.1461-107G>C	ENSP00000513684.1:n.1461-107G>C
ENST00000698362.1:c.*375G>C	ENSP00000513685.1:n.*375G>C
ENST00000698426.1:c.1024-107G>C	ENSP00000513713.1:n.1024-107G>C
ENST00000698427.1:c.1387-107G>C	ENSP00000513714.1:n.1387-107G>C
ENST00000698428.1:c.1024-107G>C	ENSP00000513715.1:n.1024-107G>C
ENST00000698429.1:n.1228-107G>C
ENST00000698430.1:c.1595-107G>C
ENST00000698431.1:c.1082-107G>C	ENSP00000513717.1:n.1082-107G>C
ENST00000698432.1:c.1154-107G>C
ENST00000698433.1:n.807-107G>C
ENST00000244137.12:c.1345-107G>C MANE Select	ENSP00000244137.5:n.1345-107G>C
ENST00000588328.6:c.1400-107G>C
ENST00000651901.1:c.1430+67G>C
ENST00000244137.11:c.1345-107G>C	ENSP00000244137.5:n.1345-107G>C
ENST00000397032.8:c.1222-107G>C	ENSP00000380226.3:n.1222-107G>C
ENST00000436370.7:c.1153-107G>C	ENSP00000391890.2:n.1153-107G>C
ENST00000589598.5:n.69+67G>C
ENST00000591968.1:n.417-107G>C
ENST00000593085.1:n.1232-107G>C
NM_000285.3:c.1345-107G>C	NP_000276.2:n.1345-107G>C
NM_001166056.1:c.1222-107G>C	NP_001159528.1:n.1222-107G>C
NM_001166057.1:c.1153-107G>C	NP_001159529.1:n.1153-107G>C
NM_000285.4:c.1345-107G>C MANE Select	NP_000276.2:n.1345-107G>C
NM_001166056.2:c.1222-107G>C	NP_001159528.1:n.1222-107G>C
NM_001166057.2:c.1153-107G>C	NP_001159529.1:n.1153-107G>C