Canonical Allele Identifier: CA127242
Gene: CETP HGNC NCBI
COSMIC:
COSM3754947 (not active)
MyVariant.info:
GRCh38 chr16:g.56982180G>A
GRCh37 chr16:g.57016092G>A
Revel Score:
ENST00000200676 (MANE Select) 0.013
ENST00000379780 0.013
gnomAD v2:
16:57016092 G / A
gnomAD v3:
16:56982180 G / A
gnomAD v4:
chr16-56982180-G-A
Joint Max Group AF 0.68354296 (NFE)
Genomes Max Group AF 0.67753349 (NFE)
Exomes Max Group AF 0.683631 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56982180G>A , CM000678.2:g.56982180G>A GRCh38
NC_000016.9:g.57016092G>A , CM000678.1:g.57016092G>A GRCh37
NC_000016.8:g.55573593G>A NCBI36
NG_008952.1:g.25258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000200676.8:c.1264G>A MANE Select ENSP00000200676.3:p.Val422Ile
ENST00000650358.1:n.1662G>A
ENST00000200676.7:c.1264G>A ENSP00000200676.3:p.Val422Ile
ENST00000379780.6:c.1084G>A ENSP00000369106.2:p.Val362Ile
ENST00000566128.1:c.1069G>A ENSP00000456276.1:p.Val357Ile
NM_000078.2:c.1264G>A NP_000069.2:p.Val422Ile
NM_001286085.1:c.1084G>A NP_001273014.1:p.Val362Ile
NM_000078.3:c.1264G>A MANE Select NP_000069.2:p.Val422Ile
NM_001286085.2:c.1084G>A NP_001273014.1:p.Val362Ile
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