Canonical Allele Identifier: CA849560020
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1190889824
gnomAD v3: 8-19955559-C-A
gnomAD v4: 8-19955559-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955559C>A , CM000670.2:g.19955559C>A GRCh38
NC_000008.10:g.19813070C>A , CM000670.1:g.19813070C>A GRCh37
NC_000008.9:g.19857350C>A NCBI36
NG_008855.1:g.21489C>A
NG_008855.2:g.58843C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.776-282C>A MANE Select ENSP00000497642.1:n.776-282C>A
ENST00000311322.8:c.776-282C>A ENSP00000309757.6:n.776-282C>A
NM_000237.2:c.776-282C>A NP_000228.1:n.776-282C>A
NM_000237.3:c.776-282C>A MANE Select NP_000228.1:n.776-282C>A