Canonical Allele Identifier: CA173377750
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1028297770
gnomAD v3: 8-19954590-G-T
gnomAD v4: 8-19954590-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954590G>T , CM000670.2:g.19954590G>T GRCh38
NC_000008.10:g.19812101G>T , CM000670.1:g.19812101G>T GRCh37
NC_000008.9:g.19856381G>T NCBI36
NG_008855.1:g.20520G>T
NG_008855.2:g.57874G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+237G>T MANE Select ENSP00000497642.1:n.775+237G>T
ENST00000311322.8:c.775+237G>T ENSP00000309757.6:n.775+237G>T
NM_000237.2:c.775+237G>T NP_000228.1:n.775+237G>T
NM_000237.3:c.775+237G>T MANE Select NP_000228.1:n.775+237G>T