Canonical Allele Identifier: CA173376350
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1106003
ClinVar RCV Id: RCV001430620
dbSNP Id: rs1014993118
gnomAD v2: 8-19809325-C-T
gnomAD v4: 8-19951814-C-T
MyVariant Identifiers: chr8:g.19809325C>T (hg19) chr8:g.19951814C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951814C>T , CM000670.2:g.19951814C>T GRCh38
NC_000008.10:g.19809325C>T , CM000670.1:g.19809325C>T GRCh37
NC_000008.9:g.19853605C>T NCBI36
NG_008855.1:g.17744C>T
NG_008855.2:g.55098C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.295C>T MANE Select ENSP00000497642.1:p.Leu99=
ENST00000311322.8:c.295C>T ENSP00000309757.6:p.Leu99=
ENST00000520959.5:c.67C>T ENSP00000428496.1:p.Leu23=
ENST00000521994.1:n.552C>T
ENST00000522701.5:c.295C>T ENSP00000428557.1:p.Leu99=
ENST00000524029.5:c.295C>T ENSP00000428237.1:p.Leu99=
NM_000237.2:c.295C>T NP_000228.1:p.Leu99=
NM_000237.3:c.295C>T MANE Select NP_000228.1:p.Leu99=
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