Canonical Allele Identifier: CA459678455
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1558443
ClinVar RCV Id: RCV002190667
dbSNP Id: rs767840257
MyVariant Identifiers: chr8:g.19809297G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951786G>A , CM000670.2:g.19951786G>A GRCh38
NC_000008.10:g.19809297G>A , CM000670.1:g.19809297G>A GRCh37
NC_000008.9:g.19853577G>A NCBI36
NG_008855.1:g.17716G>A
NG_008855.2:g.55070G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.267G>A MANE Select ENSP00000497642.1:p.Glu89=
ENST00000311322.8:c.267G>A ENSP00000309757.6:p.Glu89=
ENST00000520959.5:c.39G>A ENSP00000428496.1:p.Glu13=
ENST00000521994.1:n.524G>A
ENST00000522701.5:c.267G>A ENSP00000428557.1:p.Glu89=
ENST00000524029.5:c.267G>A ENSP00000428237.1:p.Glu89=
NM_000237.2:c.267G>A NP_000228.1:p.Glu89=
NM_000237.3:c.267G>A MANE Select NP_000228.1:p.Glu89=