Canonical Allele Identifier: CA10630610

Gene: LPL

Linked Data

• ClinVar Variation Id: 362453
• ClinVar RCV Id: RCV000364517 ; RCV001536913
• dbSNP Id: rs3866471
• gnomAD v2: 8-19824669-C-A
• gnomAD v3: 8-19967158-C-A
• gnomAD v4: 8-19967158-C-A
• MyVariant Identifiers: chr8:g.19824669C>A (hg19) ; chr8:g.19967158C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19967158C>A , CM000670.2:g.19967158C>A	GRCh38
NC_000008.10:g.19824669C>A , CM000670.1:g.19824669C>A	GRCh37
NC_000008.9:g.19868949C>A	NCBI36
NG_008855.1:g.33088C>A
NG_008855.2:g.70442C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.*1848C>A MANE Select	ENSP00000497642.1:n.*1848C>A
ENST00000650478.1:c.2216C>A	ENSP00000497560.1:n.2216C>A
ENST00000311322.8:c.*1848C>A	ENSP00000309757.6:n.*1848C>A
NM_000237.2:c.*1848C>A	NP_000228.1:n.*1848C>A
NM_000237.3:c.*1848C>A MANE Select	NP_000228.1:n.*1848C>A