Canonical Allele Identifier: CA370468741
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 3119788
ClinVar RCV Id: RCV004410611
dbSNP Id: rs1563575280
gnomAD v4: 8-19954334-T-G
MyVariant Identifiers: chr8:g.19811845T>G (hg19) chr8:g.19954334T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954334T>G , CM000670.2:g.19954334T>G GRCh38
NC_000008.10:g.19811845T>G , CM000670.1:g.19811845T>G GRCh37
NC_000008.9:g.19856125T>G NCBI36
NG_008855.1:g.20264T>G
NG_008855.2:g.57618T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.756T>G MANE Select ENSP00000497642.1:p.Ile252Met
ENST00000311322.8:c.756T>G ENSP00000309757.6:p.Ile252Met
NM_000237.2:c.756T>G NP_000228.1:p.Ile252Met
NM_000237.3:c.756T>G MANE Select NP_000228.1:p.Ile252Met
Search 100 bp 5'
Search 100 bp 3'