Canonical Allele Identifier: CA849559556
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1445936215
gnomAD v3: 8-19954548-A-G
gnomAD v4: 8-19954548-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954548A>G , CM000670.2:g.19954548A>G GRCh38
NC_000008.10:g.19812059A>G , CM000670.1:g.19812059A>G GRCh37
NC_000008.9:g.19856339A>G NCBI36
NG_008855.1:g.20478A>G
NG_008855.2:g.57832A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+195A>G MANE Select ENSP00000497642.1:n.775+195A>G
ENST00000311322.8:c.775+195A>G ENSP00000309757.6:n.775+195A>G
NM_000237.2:c.775+195A>G NP_000228.1:n.775+195A>G
NM_000237.3:c.775+195A>G MANE Select NP_000228.1:n.775+195A>G