Canonical Allele Identifier: CA4655543
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2988045
ClinVar RCV Id: RCV003844228
dbSNP Id: rs766760812
ExAC: 8:19813404 C / A
gnomAD v2: 8-19813404-C-A
gnomAD v4: 8-19955893-C-A
MyVariant Identifiers: chr8:g.19813404C>A (hg19) chr8:g.19955893C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955893C>A , CM000670.2:g.19955893C>A GRCh38
NC_000008.10:g.19813404C>A , CM000670.1:g.19813404C>A GRCh37
NC_000008.9:g.19857684C>A NCBI36
NG_008855.1:g.21823C>A
NG_008855.2:g.59177C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.828C>A MANE Select ENSP00000497642.1:p.Ile276=
ENST00000311322.8:c.828C>A ENSP00000309757.6:p.Ile276=
NM_000237.2:c.828C>A NP_000228.1:p.Ile276=
NM_000237.3:c.828C>A MANE Select NP_000228.1:p.Ile276=
Search 100 bp 5'
Search 100 bp 3'