Canonical Allele Identifier: CA580208845
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1188774041
gnomAD v2: 8-19819189-T-A
gnomAD v3: 8-19961678-T-A
gnomAD v4: 8-19961678-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961678T>A , CM000670.2:g.19961678T>A GRCh38
NC_000008.10:g.19819189T>A , CM000670.1:g.19819189T>A GRCh37
NC_000008.9:g.19863469T>A NCBI36
NG_008855.1:g.27608T>A
NG_008855.2:g.64962T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1323-437T>A MANE Select ENSP00000497642.1:n.1323-437T>A
ENST00000650478.1:c.263-437T>A ENSP00000497560.1:n.263-437T>A
ENST00000311322.8:c.1323-437T>A ENSP00000309757.6:n.1323-437T>A
NM_000237.2:c.1323-437T>A NP_000228.1:n.1323-437T>A
NM_000237.3:c.1323-437T>A MANE Select NP_000228.1:n.1323-437T>A