Canonical Allele Identifier: CA370469131
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1331026335
gnomAD v3: 8-19955935-G-T
gnomAD v4: 8-19955935-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955935G>T , CM000670.2:g.19955935G>T GRCh38
NC_000008.10:g.19813446G>T , CM000670.1:g.19813446G>T GRCh37
NC_000008.9:g.19857726G>T NCBI36
NG_008855.1:g.21865G>T
NG_008855.2:g.59219G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.870G>T MANE Select ENSP00000497642.1:p.Arg290Ser
ENST00000311322.8:c.870G>T ENSP00000309757.6:p.Arg290Ser
NM_000237.2:c.870G>T NP_000228.1:p.Arg290Ser
NM_000237.3:c.870G>T MANE Select NP_000228.1:p.Arg290Ser