Canonical Allele Identifier: CA307568082

Gene: PEPD

Linked Data

• dbSNP Id: rs906521562
• gnomAD v4: 19-33387221-C-A
• MyVariant Identifiers: chr19:g.33878127C>A (hg19) ; chr19:g.33387221C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387221C>A , CM000681.2:g.33387221C>A	GRCh38
NC_000019.9:g.33878127C>A , CM000681.1:g.33878127C>A	GRCh37
NC_000019.8:g.38569967C>A	NCBI36
NG_013358.1:g.139673G>T
NG_013358.2:g.139673G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*123G>T	ENSP00000468516.4:n.*123G>T
ENST00000651901.2:c.*123G>T	ENSP00000498922.2:n.*123G>T
ENST00000698359.1:c.*123G>T	ENSP00000513682.1:n.*123G>T
ENST00000698360.1:c.*123G>T	ENSP00000513683.1:n.*123G>T
ENST00000698361.1:c.*233G>T	ENSP00000513684.1:n.*233G>T
ENST00000698362.1:c.*742G>T	ENSP00000513685.1:n.*742G>T
ENST00000698426.1:c.*123G>T	ENSP00000513713.1:n.*123G>T
ENST00000698427.1:c.*123G>T	ENSP00000513714.1:n.*123G>T
ENST00000698428.1:c.*123G>T	ENSP00000513715.1:n.*123G>T
ENST00000698429.1:n.1488G>T
ENST00000698430.1:c.1855G>T
ENST00000698431.1:c.1342G>T	ENSP00000513717.1:n.1342G>T
ENST00000698432.1:c.1414G>T
ENST00000244137.12:c.*123G>T MANE Select	ENSP00000244137.5:n.*123G>T
ENST00000588328.6:c.1660G>T
ENST00000651901.1:c.1691G>T
ENST00000244137.11:c.*123G>T	ENSP00000244137.5:n.*123G>T
ENST00000397032.8:c.*123G>T	ENSP00000380226.3:n.*123G>T
ENST00000436370.7:c.*123G>T	ENSP00000391890.2:n.*123G>T
ENST00000589598.5:n.330G>T
ENST00000591968.1:n.677G>T
ENST00000593085.1:n.1492G>T
NM_000285.3:c.*123G>T	NP_000276.2:n.*123G>T
NM_001166056.1:c.*123G>T	NP_001159528.1:n.*123G>T
NM_001166057.1:c.*123G>T	NP_001159529.1:n.*123G>T
NM_000285.4:c.*123G>T MANE Select	NP_000276.2:n.*123G>T
NM_001166056.2:c.*123G>T	NP_001159528.1:n.*123G>T
NM_001166057.2:c.*123G>T	NP_001159529.1:n.*123G>T