Canonical Allele Identifier: CA8071360

Gene: CETP

Linked Data

• ClinVar Variation Id: 1899575
• ClinVar RCV Id: RCV002582785
• dbSNP Id: rs549930343
• ExAC: 16:57017242 C / T
• gnomAD v2: 16-57017242-C-T
• gnomAD v3: 16-56983330-C-T
• gnomAD v4: 16-56983330-C-T
• MyVariant Identifiers: chr16:g.57017242C>T (hg19) ; chr16:g.56983330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56983330C>T , CM000678.2:g.56983330C>T	GRCh38
NC_000016.9:g.57017242C>T , CM000678.1:g.57017242C>T	GRCh37
NC_000016.8:g.55574743C>T	NCBI36
NG_008952.1:g.26408C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200676.8:c.1326C>T MANE Select	ENSP00000200676.3:p.Leu442=
ENST00000650358.1:n.1724C>T
ENST00000200676.7:c.1326C>T	ENSP00000200676.3:p.Leu442=
ENST00000379780.6:c.1146C>T	ENSP00000369106.2:p.Leu382=
ENST00000566128.1:c.1131C>T	ENSP00000456276.1:p.Leu377=
NM_000078.2:c.1326C>T	NP_000069.2:p.Leu442=
NM_001286085.1:c.1146C>T	NP_001273014.1:p.Leu382=
NM_000078.3:c.1326C>T MANE Select	NP_000069.2:p.Leu442=
NM_001286085.2:c.1146C>T	NP_001273014.1:p.Leu382=