Canonical Allele Identifier: CA14364252

Gene: CETP

Linked Data

• ClinVar Variation Id: 1225266
• ClinVar RCV Id: RCV001610832
• dbSNP Id: rs12708974
• gnomAD v2: 16-57005550-C-T
• gnomAD v3: 16-56971638-C-T
• gnomAD v4: 16-56971638-C-T
• MyVariant Identifiers: chr16:g.57005550C>T (hg19) ; chr16:g.56971638C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56971638C>T , CM000678.2:g.56971638C>T	GRCh38
NC_000016.9:g.57005550C>T , CM000678.1:g.57005550C>T	GRCh37
NC_000016.8:g.55563051C>T	NCBI36
NG_008952.1:g.14716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200676.8:c.658+257C>T MANE Select	ENSP00000200676.3:n.658+257C>T
ENST00000200676.7:c.658+257C>T	ENSP00000200676.3:n.658+257C>T
ENST00000379780.6:c.658+257C>T	ENSP00000369106.2:n.658+257C>T
ENST00000566128.1:c.463+257C>T	ENSP00000456276.1:n.463+257C>T
ENST00000569082.1:n.760+257C>T
NM_000078.2:c.658+257C>T	NP_000069.2:n.658+257C>T
NM_001286085.1:c.658+257C>T	NP_001273014.1:n.658+257C>T
XM_006721124.2:c.658+257C>T	XP_006721187.1:n.658+257C>T
XM_006721124.3:c.658+257C>T	XP_006721187.1:n.658+257C>T
NM_000078.3:c.658+257C>T MANE Select	NP_000069.2:n.658+257C>T
NM_001286085.2:c.658+257C>T	NP_001273014.1:n.658+257C>T