Canonical Allele Identifier: CA16329094
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19955669G>A
GRCh37 chr8:g.19813180G>A
gnomAD v2:
8:19813180 G / A
gnomAD v3:
8:19955669 G / A
gnomAD v4:
chr8-19955669-G-A
Joint Max Group AF 0.19983834 (EAS)
Genomes Max Group AF 0.19983834 (EAS)
ClinVar RCV:
RCV001695988
ClinVar Variation:
1282596
dbSNP:
264
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955669G>A , CM000670.2:g.19955669G>A GRCh38
NC_000008.10:g.19813180G>A , CM000670.1:g.19813180G>A GRCh37
NC_000008.9:g.19857460G>A NCBI36
NG_008855.1:g.21599G>A
NG_008855.2:g.58953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.776-172G>A MANE Select ENSP00000497642.1:n.776-172G>A
ENST00000311322.8:c.776-172G>A ENSP00000309757.6:n.776-172G>A
NM_000237.2:c.776-172G>A NP_000228.1:n.776-172G>A
NM_000237.3:c.776-172G>A MANE Select NP_000228.1:n.776-172G>A
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