Canonical Allele Identifier: CA396008092

Gene: CETP

Linked Data

• dbSNP Id: rs1164754201
• gnomAD v3: 16-56983349-C-T
• gnomAD v4: 16-56983349-C-T
• MyVariant Identifiers: chr16:g.57017261C>T (hg19) ; chr16:g.56983349C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200676.8:c.1345C>T MANE Select	ENSP00000200676.3:p.Leu449Phe
ENST00000650358.1:n.1743C>T
ENST00000200676.7:c.1345C>T	ENSP00000200676.3:p.Leu449Phe
ENST00000379780.6:c.1165C>T	ENSP00000369106.2:p.Leu389Phe
ENST00000566128.1:c.1150C>T	ENSP00000456276.1:p.Leu384Phe
NM_000078.2:c.1345C>T	NP_000069.2:p.Leu449Phe
NM_001286085.1:c.1165C>T	NP_001273014.1:p.Leu389Phe
NM_000078.3:c.1345C>T MANE Select	NP_000069.2:p.Leu449Phe
NM_001286085.2:c.1165C>T	NP_001273014.1:p.Leu389Phe