Canonical Allele Identifier: CA396008118

Gene: CETP

Linked Data

• gnomAD v4: 16-56983353-T-G
• MyVariant Identifiers: chr16:g.57017265T>G (hg19) ; chr16:g.56983353T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56983353T>G , CM000678.2:g.56983353T>G	GRCh38
NC_000016.9:g.57017265T>G , CM000678.1:g.57017265T>G	GRCh37
NC_000016.8:g.55574766T>G	NCBI36
NG_008952.1:g.26431T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200676.8:c.1349T>G MANE Select	ENSP00000200676.3:p.Met450Arg
ENST00000650358.1:n.1747T>G
ENST00000200676.7:c.1349T>G	ENSP00000200676.3:p.Met450Arg
ENST00000379780.6:c.1169T>G	ENSP00000369106.2:p.Met390Arg
ENST00000566128.1:c.1154T>G	ENSP00000456276.1:p.Met385Arg
NM_000078.2:c.1349T>G	NP_000069.2:p.Met450Arg
NM_001286085.1:c.1169T>G	NP_001273014.1:p.Met390Arg
NM_000078.3:c.1349T>G MANE Select	NP_000069.2:p.Met450Arg
NM_001286085.2:c.1169T>G	NP_001273014.1:p.Met390Arg