Canonical Allele Identifier: CA881597970

Gene: PEPD

Linked Data

• dbSNP Id: rs1474147557
• gnomAD v4: 19-33387261-T-C
• MyVariant Identifiers: chr19:g.33878167T>C (hg19) ; chr19:g.33387261T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387261T>C , CM000681.2:g.33387261T>C	GRCh38
NC_000019.9:g.33878167T>C , CM000681.1:g.33878167T>C	GRCh37
NC_000019.8:g.38570007T>C	NCBI36
NG_013358.1:g.139633A>G
NG_013358.2:g.139633A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*83A>G	ENSP00000468516.4:n.*83A>G
ENST00000651901.2:c.*83A>G	ENSP00000498922.2:n.*83A>G
ENST00000698359.1:c.*83A>G	ENSP00000513682.1:n.*83A>G
ENST00000698360.1:c.*83A>G	ENSP00000513683.1:n.*83A>G
ENST00000698361.1:c.*193A>G	ENSP00000513684.1:n.*193A>G
ENST00000698362.1:c.*702A>G	ENSP00000513685.1:n.*702A>G
ENST00000698426.1:c.*83A>G	ENSP00000513713.1:n.*83A>G
ENST00000698427.1:c.*83A>G	ENSP00000513714.1:n.*83A>G
ENST00000698428.1:c.*83A>G	ENSP00000513715.1:n.*83A>G
ENST00000698429.1:n.1448A>G
ENST00000698430.1:c.1815A>G
ENST00000698431.1:c.1302A>G	ENSP00000513717.1:n.1302A>G
ENST00000698432.1:c.1374A>G
ENST00000244137.12:c.*83A>G MANE Select	ENSP00000244137.5:n.*83A>G
ENST00000588328.6:c.1620A>G
ENST00000651901.1:c.1651A>G
ENST00000244137.11:c.*83A>G	ENSP00000244137.5:n.*83A>G
ENST00000397032.8:c.*83A>G	ENSP00000380226.3:n.*83A>G
ENST00000436370.7:c.*83A>G	ENSP00000391890.2:n.*83A>G
ENST00000589598.5:n.290A>G
ENST00000591968.1:n.637A>G
ENST00000593085.1:n.1452A>G
NM_000285.3:c.*83A>G	NP_000276.2:n.*83A>G
NM_001166056.1:c.*83A>G	NP_001159528.1:n.*83A>G
NM_001166057.1:c.*83A>G	NP_001159529.1:n.*83A>G
NM_000285.4:c.*83A>G MANE Select	NP_000276.2:n.*83A>G
NM_001166056.2:c.*83A>G	NP_001159528.1:n.*83A>G
NM_001166057.2:c.*83A>G	NP_001159529.1:n.*83A>G