Canonical Allele Identifier: CA12755592
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1165812
ClinVar RCV Id: RCV001513263
dbSNP Id: rs320
gnomAD v2: 8-19819077-T-G
gnomAD v3: 8-19961566-T-G
gnomAD v4: 8-19961566-T-G
MyVariant Identifiers: chr8:g.19819077T>G (hg19) chr8:g.19961566T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961566T>G , CM000670.2:g.19961566T>G GRCh38
NC_000008.10:g.19819077T>G , CM000670.1:g.19819077T>G GRCh37
NC_000008.9:g.19863357T>G NCBI36
NG_008855.1:g.27496T>G
NG_008855.2:g.64850T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1322+483T>G MANE Select ENSP00000497642.1:n.1322+483T>G
ENST00000650478.1:c.262+483T>G ENSP00000497560.1:n.262+483T>G
ENST00000311322.8:c.1322+483T>G ENSP00000309757.6:n.1322+483T>G
NM_000237.2:c.1322+483T>G NP_000228.1:n.1322+483T>G
NM_000237.3:c.1322+483T>G MANE Select NP_000228.1:n.1322+483T>G
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