Canonical Allele Identifier: CA580502349
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1333649906
gnomAD v2: 8-19813162-C-G
gnomAD v3: 8-19955651-C-G
gnomAD v4: 8-19955651-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955651C>G , CM000670.2:g.19955651C>G GRCh38
NC_000008.10:g.19813162C>G , CM000670.1:g.19813162C>G GRCh37
NC_000008.9:g.19857442C>G NCBI36
NG_008855.1:g.21581C>G
NG_008855.2:g.58935C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.776-190C>G MANE Select ENSP00000497642.1:n.776-190C>G
ENST00000311322.8:c.776-190C>G ENSP00000309757.6:n.776-190C>G
NM_000237.2:c.776-190C>G NP_000228.1:n.776-190C>G
NM_000237.3:c.776-190C>G MANE Select NP_000228.1:n.776-190C>G