Canonical Allele Identifier: CA370468477
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1291000478
gnomAD v4: 8-19954227-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954227C>G , CM000670.2:g.19954227C>G GRCh38
NC_000008.10:g.19811738C>G , CM000670.1:g.19811738C>G GRCh37
NC_000008.9:g.19856018C>G NCBI36
NG_008855.1:g.20157C>G
NG_008855.2:g.57511C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.649C>G MANE Select ENSP00000497642.1:p.Pro217Ala
ENST00000311322.8:c.649C>G ENSP00000309757.6:p.Pro217Ala
NM_000237.2:c.649C>G NP_000228.1:p.Pro217Ala
NM_000237.3:c.649C>G MANE Select NP_000228.1:p.Pro217Ala