Canonical Allele Identifier: CA995299794

Gene: PEPD

Linked Data

• dbSNP Id: rs1968491639
• gnomAD v3: 19-33401592-G-A
• gnomAD v4: 19-33401592-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401592G>A , CM000681.2:g.33401592G>A	GRCh38
NC_000019.9:g.33892498G>A , CM000681.1:g.33892498G>A	GRCh37
NC_000019.8:g.38584338G>A	NCBI36
NG_013358.1:g.125302C>T
NG_013358.2:g.125302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.967+129C>T	ENSP00000468516.4:n.967+129C>T
ENST00000651901.2:c.967+129C>T	ENSP00000498922.2:n.967+129C>T
ENST00000698359.1:c.922+129C>T	ENSP00000513682.1:n.922+129C>T
ENST00000698360.1:c.1018+129C>T	ENSP00000513683.1:n.1018+129C>T
ENST00000698361.1:c.967+129C>T	ENSP00000513684.1:n.967+129C>T
ENST00000698362.1:c.967+129C>T	ENSP00000513685.1:n.967+129C>T
ENST00000698363.1:n.1030+129C>T
ENST00000698364.1:n.1030+129C>T
ENST00000698365.1:n.1159C>T
ENST00000698426.1:c.646+129C>T	ENSP00000513713.1:n.646+129C>T
ENST00000698427.1:c.1009+129C>T	ENSP00000513714.1:n.1009+129C>T
ENST00000698428.1:c.646+129C>T	ENSP00000513715.1:n.646+129C>T
ENST00000698429.1:n.850+129C>T
ENST00000698430.1:c.1217+129C>T
ENST00000698431.1:c.704+129C>T	ENSP00000513717.1:n.704+129C>T
ENST00000698432.1:c.776+129C>T
ENST00000698433.1:n.429+129C>T
ENST00000698434.1:n.454+129C>T
ENST00000244137.12:c.967+129C>T MANE Select	ENSP00000244137.5:n.967+129C>T
ENST00000588328.6:c.956+129C>T
ENST00000590731.6:n.642+129C>T
ENST00000651901.1:c.963+129C>T
ENST00000244137.11:c.967+129C>T	ENSP00000244137.5:n.967+129C>T
ENST00000397032.8:c.844+129C>T	ENSP00000380226.3:n.844+129C>T
ENST00000436370.7:c.775+129C>T	ENSP00000391890.2:n.775+129C>T
ENST00000588328.5:c.458+129C>T
NM_000285.3:c.967+129C>T	NP_000276.2:n.967+129C>T
NM_001166056.1:c.844+129C>T	NP_001159528.1:n.844+129C>T
NM_001166057.1:c.775+129C>T	NP_001159529.1:n.775+129C>T
NM_000285.4:c.967+129C>T MANE Select	NP_000276.2:n.967+129C>T
NM_001166056.2:c.844+129C>T	NP_001159528.1:n.844+129C>T
NM_001166057.2:c.775+129C>T	NP_001159529.1:n.775+129C>T