Canonical Allele Identifier: CA4655376
Gene: LPL HGNC NCBI
COSMIC:
COSM4698594 (not active)
MyVariant.info:
GRCh38 chr8:g.19951811G>A
GRCh37 chr8:g.19809322G>A
Revel Score:
ENST00000520959 0.763
ENST00000524029 0.763
ENST00000522701 0.763
ENST00000311322 0.763
ENST00000538071 0.763
ENST00000535763 0.763
gnomAD v2:
8:19809322 G / A
gnomAD v3:
8:19951811 G / A
gnomAD v4:
chr8-19951811-G-A
Joint Max Group AF 0.00042392 (EAS)
Genomes Max Group AF 0.00037984 (EAS)
Exomes Max Group AF 0.00037504 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951811G>A , CM000670.2:g.19951811G>A GRCh38
NC_000008.10:g.19809322G>A , CM000670.1:g.19809322G>A GRCh37
NC_000008.9:g.19853602G>A NCBI36
NG_008855.1:g.17741G>A
NG_008855.2:g.55095G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.292G>A MANE Select ENSP00000497642.1:p.Ala98Thr
ENST00000311322.8:c.292G>A ENSP00000309757.6:p.Ala98Thr
ENST00000520959.5:c.64G>A ENSP00000428496.1:p.Ala22Thr
ENST00000521994.1:n.549G>A
ENST00000522701.5:c.292G>A ENSP00000428557.1:p.Ala98Thr
ENST00000524029.5:c.292G>A ENSP00000428237.1:p.Ala98Thr
NM_000237.2:c.292G>A NP_000228.1:p.Ala98Thr
NM_000237.3:c.292G>A MANE Select NP_000228.1:p.Ala98Thr
Search 100 bp 5'
Search 100 bp 3'