Canonical Allele Identifier: CA580208847
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1444588023
gnomAD v2: 8-19819209-C-A
gnomAD v3: 8-19961698-C-A
gnomAD v4: 8-19961698-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961698C>A , CM000670.2:g.19961698C>A GRCh38
NC_000008.10:g.19819209C>A , CM000670.1:g.19819209C>A GRCh37
NC_000008.9:g.19863489C>A NCBI36
NG_008855.1:g.27628C>A
NG_008855.2:g.64982C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1323-417C>A MANE Select ENSP00000497642.1:n.1323-417C>A
ENST00000650478.1:c.263-417C>A ENSP00000497560.1:n.263-417C>A
ENST00000311322.8:c.1323-417C>A ENSP00000309757.6:n.1323-417C>A
NM_000237.2:c.1323-417C>A NP_000228.1:n.1323-417C>A
NM_000237.3:c.1323-417C>A MANE Select NP_000228.1:n.1323-417C>A