Canonical Allele Identifier: CA9364011

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328801
• ClinVar RCV Id: RCV000403163 ; RCV002521204 ; RCV002521205
• dbSNP Id: rs200183031
• ExAC: 19:33882259 G / A
• gnomAD v2: 19-33882259-G-A
• gnomAD v3: 19-33391353-G-A
• gnomAD v4: 19-33391353-G-A
• MyVariant Identifiers: chr19:g.33882259G>A (hg19) ; chr19:g.33391353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33391353G>A , CM000681.2:g.33391353G>A	GRCh38
NC_000019.9:g.33882259G>A , CM000681.1:g.33882259G>A	GRCh37
NC_000019.8:g.38574099G>A	NCBI36
NG_013358.1:g.135541C>T
NG_013358.2:g.135541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1160C>T	ENSP00000468516.4:p.Pro387Leu
ENST00000651901.2:c.1094C>T	ENSP00000498922.2:p.Pro365Leu
ENST00000698359.1:c.1049C>T	ENSP00000513682.1:p.Pro350Leu
ENST00000698360.1:c.1145C>T	ENSP00000513683.1:p.Pro382Leu
ENST00000698361.1:c.1094C>T	ENSP00000513684.1:p.Pro365Leu
ENST00000698362.1:c.968-3272C>T	ENSP00000513685.1:n.968-3272C>T
ENST00000698426.1:c.773C>T	ENSP00000513713.1:p.Pro258Leu
ENST00000698427.1:c.1136C>T	ENSP00000513714.1:p.Pro379Leu
ENST00000698428.1:c.773C>T	ENSP00000513715.1:p.Pro258Leu
ENST00000698429.1:n.977C>T
ENST00000698430.1:c.1344C>T
ENST00000698431.1:c.831C>T	ENSP00000513717.1:n.831C>T
ENST00000698432.1:c.903C>T
ENST00000698433.1:n.556C>T
ENST00000244137.12:c.1094C>T MANE Select	ENSP00000244137.5:p.Pro365Leu
ENST00000588328.6:c.1149C>T
ENST00000590731.6:n.769C>T
ENST00000651901.1:c.1090C>T
ENST00000244137.11:c.1094C>T	ENSP00000244137.5:p.Pro365Leu
ENST00000397032.8:c.971C>T	ENSP00000380226.3:p.Pro324Leu
ENST00000436370.7:c.902C>T	ENSP00000391890.2:p.Pro301Leu
ENST00000591968.1:n.166C>T
NM_000285.3:c.1094C>T	NP_000276.2:p.Pro365Leu
NM_001166056.1:c.971C>T	NP_001159528.1:p.Pro324Leu
NM_001166057.1:c.902C>T	NP_001159529.1:p.Pro301Leu
NM_000285.4:c.1094C>T MANE Select	NP_000276.2:p.Pro365Leu
NM_001166056.2:c.971C>T	NP_001159528.1:p.Pro324Leu
NM_001166057.2:c.902C>T	NP_001159529.1:p.Pro301Leu