Canonical Allele Identifier: CA580502403
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1467255274
gnomAD v2: 8-19809509-G-A
gnomAD v4: 8-19951998-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951998G>A , CM000670.2:g.19951998G>A GRCh38
NC_000008.10:g.19809509G>A , CM000670.1:g.19809509G>A GRCh37
NC_000008.9:g.19853789G>A NCBI36
NG_008855.1:g.17928G>A
NG_008855.2:g.55282G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.429+50G>A MANE Select ENSP00000497642.1:n.429+50G>A
ENST00000311322.8:c.429+50G>A ENSP00000309757.6:n.429+50G>A
ENST00000520959.5:c.201+50G>A ENSP00000428496.1:n.201+50G>A
NM_000237.2:c.429+50G>A NP_000228.1:n.429+50G>A
NM_000237.3:c.429+50G>A MANE Select NP_000228.1:n.429+50G>A