Canonical Allele Identifier: CA506686765

Gene: PEPD

Linked Data

• dbSNP Id: rs1968098161
• gnomAD v4: 19-33387410-C-A
• MyVariant Identifiers: chr19:g.33878316C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387410C>A , CM000681.2:g.33387410C>A	GRCh38
NC_000019.9:g.33878316C>A , CM000681.1:g.33878316C>A	GRCh37
NC_000019.8:g.38570156C>A	NCBI36
NG_013358.1:g.139484G>T
NG_013358.2:g.139484G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1482G>T	ENSP00000468516.4:p.Val494=
ENST00000651901.2:c.1506G>T	ENSP00000498922.2:p.Val502=
ENST00000698359.1:c.1371G>T	ENSP00000513682.1:p.Val457=
ENST00000698360.1:c.1467G>T	ENSP00000513683.1:p.Val489=
ENST00000698361.1:c.*44G>T	ENSP00000513684.1:n.*44G>T
ENST00000698362.1:c.*553G>T	ENSP00000513685.1:n.*553G>T
ENST00000698426.1:c.1095G>T	ENSP00000513713.1:p.Val365=
ENST00000698427.1:c.1458G>T	ENSP00000513714.1:p.Val486=
ENST00000698428.1:c.1095G>T	ENSP00000513715.1:p.Val365=
ENST00000698429.1:n.1299G>T
ENST00000698430.1:c.1666G>T
ENST00000698431.1:c.1153G>T	ENSP00000513717.1:n.1153G>T
ENST00000698432.1:c.1225G>T
ENST00000698433.1:n.878G>T
ENST00000244137.12:c.1416G>T MANE Select	ENSP00000244137.5:p.Val472=
ENST00000588328.6:c.1471G>T
ENST00000651901.1:c.1502G>T
ENST00000244137.11:c.1416G>T	ENSP00000244137.5:p.Val472=
ENST00000397032.8:c.1293G>T	ENSP00000380226.3:p.Val431=
ENST00000436370.7:c.1224G>T	ENSP00000391890.2:p.Val408=
ENST00000589598.5:n.141G>T
ENST00000591968.1:n.488G>T
ENST00000593085.1:n.1303G>T
NM_000285.3:c.1416G>T	NP_000276.2:p.Val472=
NM_001166056.1:c.1293G>T	NP_001159528.1:p.Val431=
NM_001166057.1:c.1224G>T	NP_001159529.1:p.Val408=
NM_000285.4:c.1416G>T MANE Select	NP_000276.2:p.Val472=
NM_001166056.2:c.1293G>T	NP_001159528.1:p.Val431=
NM_001166057.2:c.1224G>T	NP_001159529.1:p.Val408=