Canonical Allele Identifier: CA459678466
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2116421
ClinVar RCV Id: RCV003024710 RCV004526956
dbSNP Id: rs2069936441
gnomAD v4: 8-19951804-T-C
MyVariant Identifiers: chr8:g.19809315T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951804T>C , CM000670.2:g.19951804T>C GRCh38
NC_000008.10:g.19809315T>C , CM000670.1:g.19809315T>C GRCh37
NC_000008.9:g.19853595T>C NCBI36
NG_008855.1:g.17734T>C
NG_008855.2:g.55088T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.285T>C MANE Select ENSP00000497642.1:p.Leu95=
ENST00000311322.8:c.285T>C ENSP00000309757.6:p.Leu95=
ENST00000520959.5:c.57T>C ENSP00000428496.1:p.Leu19=
ENST00000521994.1:n.542T>C
ENST00000522701.5:c.285T>C ENSP00000428557.1:p.Leu95=
ENST00000524029.5:c.285T>C ENSP00000428237.1:p.Leu95=
NM_000237.2:c.285T>C NP_000228.1:p.Leu95=
NM_000237.3:c.285T>C MANE Select NP_000228.1:p.Leu95=
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