Canonical Allele Identifier: CA173378278
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 851236
ClinVar RCV Id: RCV001055591 RCV001809969
dbSNP Id: rs35414700
gnomAD v2: 8-19813412-T-G
gnomAD v3: 8-19955901-T-G
gnomAD v4: 8-19955901-T-G
MyVariant Identifiers: chr8:g.19813412T>G (hg19) chr8:g.19955901T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955901T>G , CM000670.2:g.19955901T>G GRCh38
NC_000008.10:g.19813412T>G , CM000670.1:g.19813412T>G GRCh37
NC_000008.9:g.19857692T>G NCBI36
NG_008855.1:g.21831T>G
NG_008855.2:g.59185T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.836T>G MANE Select ENSP00000497642.1:p.Leu279Arg
ENST00000311322.8:c.836T>G ENSP00000309757.6:p.Leu279Arg
NM_000237.2:c.836T>G NP_000228.1:p.Leu279Arg
NM_000237.3:c.836T>G MANE Select NP_000228.1:p.Leu279Arg
Search 100 bp 5'
Search 100 bp 3'