Canonical Allele Identifier: CA459879290
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1144151
ClinVar RCV Id: RCV001482551
dbSNP Id: rs1249459624
gnomAD v4: 8-19954124-C-G
MyVariant Identifiers: chr8:g.19811635C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954124C>G , CM000670.2:g.19954124C>G GRCh38
NC_000008.10:g.19811635C>G , CM000670.1:g.19811635C>G GRCh37
NC_000008.9:g.19855915C>G NCBI36
NG_008855.1:g.20054C>G
NG_008855.2:g.57408C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.546C>G MANE Select ENSP00000497642.1:p.Leu182=
ENST00000311322.8:c.546C>G ENSP00000309757.6:p.Leu182=
ENST00000520959.5:c.318C>G ENSP00000428496.1:p.Leu106=
NM_000237.2:c.546C>G NP_000228.1:p.Leu182=
NM_000237.3:c.546C>G MANE Select NP_000228.1:p.Leu182=