Canonical Allele Identifier: CA4655487
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2568386
ClinVar RCV Id: RCV003283623
dbSNP Id: rs754292853
gnomAD v2: 8-19811742-G-A
gnomAD v4: 8-19954231-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954231G>A , CM000670.2:g.19954231G>A GRCh38
NC_000008.10:g.19811742G>A , CM000670.1:g.19811742G>A GRCh37
NC_000008.9:g.19856022G>A NCBI36
NG_008855.1:g.20161G>A
NG_008855.2:g.57515G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.653G>A MANE Select ENSP00000497642.1:p.Gly218Asp
ENST00000311322.8:c.653G>A ENSP00000309757.6:p.Gly218Asp
NM_000237.2:c.653G>A NP_000228.1:p.Gly218Asp
NM_000237.3:c.653G>A MANE Select NP_000228.1:p.Gly218Asp