Canonical Allele Identifier: CA9363852

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1579315
• ClinVar RCV Id: RCV002093169
• dbSNP Id: rs375224388
• ExAC: 19:33878277 G / A
• gnomAD v2: 19-33878277-G-A
• gnomAD v3: 19-33387371-G-A
• gnomAD v4: 19-33387371-G-A
• MyVariant Identifiers: chr19:g.33878277G>A (hg19) ; chr19:g.33387371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387371G>A , CM000681.2:g.33387371G>A	GRCh38
NC_000019.9:g.33878277G>A , CM000681.1:g.33878277G>A	GRCh37
NC_000019.8:g.38570117G>A	NCBI36
NG_013358.1:g.139523C>T
NG_013358.2:g.139523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1521C>T	ENSP00000468516.4:p.Ala507=
ENST00000651901.2:c.1545C>T	ENSP00000498922.2:p.Ala515=
ENST00000698359.1:c.1410C>T	ENSP00000513682.1:p.Ala470=
ENST00000698360.1:c.1506C>T	ENSP00000513683.1:p.Ala502=
ENST00000698361.1:c.*83C>T	ENSP00000513684.1:n.*83C>T
ENST00000698362.1:c.*592C>T	ENSP00000513685.1:n.*592C>T
ENST00000698426.1:c.1134C>T	ENSP00000513713.1:p.Ala378=
ENST00000698427.1:c.1497C>T	ENSP00000513714.1:p.Ala499=
ENST00000698428.1:c.1134C>T	ENSP00000513715.1:p.Ala378=
ENST00000698429.1:n.1338C>T
ENST00000698430.1:c.1705C>T
ENST00000698431.1:c.1192C>T	ENSP00000513717.1:n.1192C>T
ENST00000698432.1:c.1264C>T
ENST00000698433.1:n.917C>T
ENST00000244137.12:c.1455C>T MANE Select	ENSP00000244137.5:p.Ala485=
ENST00000588328.6:c.1510C>T
ENST00000651901.1:c.1541C>T
ENST00000244137.11:c.1455C>T	ENSP00000244137.5:p.Ala485=
ENST00000397032.8:c.1332C>T	ENSP00000380226.3:p.Ala444=
ENST00000436370.7:c.1263C>T	ENSP00000391890.2:p.Ala421=
ENST00000589598.5:n.180C>T
ENST00000591968.1:n.527C>T
ENST00000593085.1:n.1342C>T
NM_000285.3:c.1455C>T	NP_000276.2:p.Ala485=
NM_001166056.1:c.1332C>T	NP_001159528.1:p.Ala444=
NM_001166057.1:c.1263C>T	NP_001159529.1:p.Ala421=
NM_000285.4:c.1455C>T MANE Select	NP_000276.2:p.Ala485=
NM_001166056.2:c.1332C>T	NP_001159528.1:p.Ala444=
NM_001166057.2:c.1263C>T	NP_001159529.1:p.Ala421=