Canonical Allele Identifier: CA370467394
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1795424
ClinVar RCV Id: RCV002439234
dbSNP Id: rs756598856
gnomAD v2: 8-19809303-G-C
gnomAD v4: 8-19951792-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951792G>C , CM000670.2:g.19951792G>C GRCh38
NC_000008.10:g.19809303G>C , CM000670.1:g.19809303G>C GRCh37
NC_000008.9:g.19853583G>C NCBI36
NG_008855.1:g.17722G>C
NG_008855.2:g.55076G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.273G>C MANE Select ENSP00000497642.1:p.Trp91Cys
ENST00000311322.8:c.273G>C ENSP00000309757.6:p.Trp91Cys
ENST00000520959.5:c.45G>C ENSP00000428496.1:p.Trp15Cys
ENST00000521994.1:n.530G>C
ENST00000522701.5:c.273G>C ENSP00000428557.1:p.Trp91Cys
ENST00000524029.5:c.273G>C ENSP00000428237.1:p.Trp91Cys
NM_000237.2:c.273G>C NP_000228.1:p.Trp91Cys
NM_000237.3:c.273G>C MANE Select NP_000228.1:p.Trp91Cys