Canonical Allele Identifier: CA251884
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1546
ClinVar RCV Id: RCV000001611
dbSNP Id: rs118204075

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954243G>A , CM000670.2:g.19954243G>A GRCh38
NC_000008.10:g.19811754G>A , CM000670.1:g.19811754G>A GRCh37
NC_000008.9:g.19856034G>A NCBI36
NG_008855.1:g.20173G>A
NG_008855.2:g.57527G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.665G>A MANE Select ENSP00000497642.1:p.Gly222Glu
ENST00000311322.8:c.665G>A ENSP00000309757.6:p.Gly222Glu
NM_000237.2:c.665G>A NP_000228.1:p.Gly222Glu
NM_000237.3:c.665G>A MANE Select NP_000228.1:p.Gly222Glu