Canonical Allele Identifier: CA307568090

Gene: PEPD

Linked Data

• dbSNP Id: rs999647056
• gnomAD v2: 19-33878128-C-T
• gnomAD v3: 19-33387222-C-T
• gnomAD v4: 19-33387222-C-T
• MyVariant Identifiers: chr19:g.33878128C>T (hg19) ; chr19:g.33387222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387222C>T , CM000681.2:g.33387222C>T	GRCh38
NC_000019.9:g.33878128C>T , CM000681.1:g.33878128C>T	GRCh37
NC_000019.8:g.38569968C>T	NCBI36
NG_013358.1:g.139672G>A
NG_013358.2:g.139672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*122G>A	ENSP00000468516.4:n.*122G>A
ENST00000651901.2:c.*122G>A	ENSP00000498922.2:n.*122G>A
ENST00000698359.1:c.*122G>A	ENSP00000513682.1:n.*122G>A
ENST00000698360.1:c.*122G>A	ENSP00000513683.1:n.*122G>A
ENST00000698361.1:c.*232G>A	ENSP00000513684.1:n.*232G>A
ENST00000698362.1:c.*741G>A	ENSP00000513685.1:n.*741G>A
ENST00000698426.1:c.*122G>A	ENSP00000513713.1:n.*122G>A
ENST00000698427.1:c.*122G>A	ENSP00000513714.1:n.*122G>A
ENST00000698428.1:c.*122G>A	ENSP00000513715.1:n.*122G>A
ENST00000698429.1:n.1487G>A
ENST00000698430.1:c.1854G>A
ENST00000698431.1:c.1341G>A	ENSP00000513717.1:n.1341G>A
ENST00000698432.1:c.1413G>A
ENST00000244137.12:c.*122G>A MANE Select	ENSP00000244137.5:n.*122G>A
ENST00000588328.6:c.1659G>A
ENST00000651901.1:c.1690G>A
ENST00000244137.11:c.*122G>A	ENSP00000244137.5:n.*122G>A
ENST00000397032.8:c.*122G>A	ENSP00000380226.3:n.*122G>A
ENST00000436370.7:c.*122G>A	ENSP00000391890.2:n.*122G>A
ENST00000589598.5:n.329G>A
ENST00000591968.1:n.676G>A
ENST00000593085.1:n.1491G>A
NM_000285.3:c.*122G>A	NP_000276.2:n.*122G>A
NM_001166056.1:c.*122G>A	NP_001159528.1:n.*122G>A
NM_001166057.1:c.*122G>A	NP_001159529.1:n.*122G>A
NM_000285.4:c.*122G>A MANE Select	NP_000276.2:n.*122G>A
NM_001166056.2:c.*122G>A	NP_001159528.1:n.*122G>A
NM_001166057.2:c.*122G>A	NP_001159529.1:n.*122G>A