Canonical Allele Identifier: CA370468358
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2220682
ClinVar RCV Id: RCV004083741
dbSNP Id: rs2128838162
MyVariant Identifiers: chr8:g.19811681C>G (hg19) chr8:g.19954170C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954170C>G , CM000670.2:g.19954170C>G GRCh38
NC_000008.10:g.19811681C>G , CM000670.1:g.19811681C>G GRCh37
NC_000008.9:g.19855961C>G NCBI36
NG_008855.1:g.20100C>G
NG_008855.2:g.57454C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.592C>G MANE Select ENSP00000497642.1:p.Leu198Val
ENST00000311322.8:c.592C>G ENSP00000309757.6:p.Leu198Val
NM_000237.2:c.592C>G NP_000228.1:p.Leu198Val
NM_000237.3:c.592C>G MANE Select NP_000228.1:p.Leu198Val
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Search 100 bp 3'