Canonical Allele Identifier: CA396008090
Gene: CETP HGNC NCBI

Linked Data

ClinVar Variation Id: 1357558
ClinVar RCV Id: RCV001878398 RCV002489981
dbSNP Id: rs1164754201
gnomAD v2: 16-57017261-C-A
gnomAD v3: 16-56983349-C-A
gnomAD v4: 16-56983349-C-A
MyVariant Identifiers: chr16:g.57017261C>A (hg19) chr16:g.56983349C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56983349C>A , CM000678.2:g.56983349C>A GRCh38
NC_000016.9:g.57017261C>A , CM000678.1:g.57017261C>A GRCh37
NC_000016.8:g.55574762C>A NCBI36
NG_008952.1:g.26427C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000200676.8:c.1345C>A MANE Select ENSP00000200676.3:p.Leu449Ile
ENST00000650358.1:n.1743C>A
ENST00000200676.7:c.1345C>A ENSP00000200676.3:p.Leu449Ile
ENST00000379780.6:c.1165C>A ENSP00000369106.2:p.Leu389Ile
ENST00000566128.1:c.1150C>A ENSP00000456276.1:p.Leu384Ile
NM_000078.2:c.1345C>A NP_000069.2:p.Leu449Ile
NM_001286085.1:c.1165C>A NP_001273014.1:p.Leu389Ile
NM_000078.3:c.1345C>A MANE Select NP_000069.2:p.Leu449Ile
NM_001286085.2:c.1165C>A NP_001273014.1:p.Leu389Ile
Search 100 bp 5'
Search 100 bp 3'