Canonical Allele Identifier: CA459678502
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1731363
ClinVar RCV Id: RCV002457022 RCV003099478
gnomAD v4: 8-19951861-G-A
MyVariant Identifiers: chr8:g.19809372G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951861G>A , CM000670.2:g.19951861G>A GRCh38
NC_000008.10:g.19809372G>A , CM000670.1:g.19809372G>A GRCh37
NC_000008.9:g.19853652G>A NCBI36
NG_008855.1:g.17791G>A
NG_008855.2:g.55145G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.342G>A MANE Select ENSP00000497642.1:p.Leu114=
ENST00000311322.8:c.342G>A ENSP00000309757.6:p.Leu114=
ENST00000520959.5:c.114G>A ENSP00000428496.1:p.Leu38=
ENST00000524029.5:c.342G>A ENSP00000428237.1:p.Leu114=
NM_000237.2:c.342G>A NP_000228.1:p.Leu114=
NM_000237.3:c.342G>A MANE Select NP_000228.1:p.Leu114=
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