Canonical Allele Identifier: CA4655374
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1284647
ClinVar RCV Id: RCV001699858
dbSNP Id: rs373088068
ExAC: 8:19809316 G / C
gnomAD v2: 8-19809316-G-C
gnomAD v3: 8-19951805-G-C
gnomAD v4: 8-19951805-G-C
MyVariant Identifiers: chr8:g.19809316G>C (hg19) chr8:g.19951805G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951805G>C , CM000670.2:g.19951805G>C GRCh38
NC_000008.10:g.19809316G>C , CM000670.1:g.19809316G>C GRCh37
NC_000008.9:g.19853596G>C NCBI36
NG_008855.1:g.17735G>C
NG_008855.2:g.55089G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.286G>C MANE Select ENSP00000497642.1:p.Val96Leu
ENST00000311322.8:c.286G>C ENSP00000309757.6:p.Val96Leu
ENST00000520959.5:c.58G>C ENSP00000428496.1:p.Val20Leu
ENST00000521994.1:n.543G>C
ENST00000522701.5:c.286G>C ENSP00000428557.1:p.Val96Leu
ENST00000524029.5:c.286G>C ENSP00000428237.1:p.Val96Leu
NM_000237.2:c.286G>C NP_000228.1:p.Val96Leu
NM_000237.3:c.286G>C MANE Select NP_000228.1:p.Val96Leu
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