Canonical Allele Identifier: CA370468540
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1405688
ClinVar RCV Id: RCV001906639
dbSNP Id: rs528243561
gnomAD v4: 8-19954258-T-G
MyVariant Identifiers: chr8:g.19811769T>G (hg19) chr8:g.19954258T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954258T>G , CM000670.2:g.19954258T>G GRCh38
NC_000008.10:g.19811769T>G , CM000670.1:g.19811769T>G GRCh37
NC_000008.9:g.19856049T>G NCBI36
NG_008855.1:g.20188T>G
NG_008855.2:g.57542T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.680T>G MANE Select ENSP00000497642.1:p.Val227Gly
ENST00000311322.8:c.680T>G ENSP00000309757.6:p.Val227Gly
NM_000237.2:c.680T>G NP_000228.1:p.Val227Gly
NM_000237.3:c.680T>G MANE Select NP_000228.1:p.Val227Gly
Search 100 bp 5'
Search 100 bp 3'