Canonical Allele Identifier: CA4655487
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19954231G>A
GRCh37 chr8:g.19811742G>A
Revel Score:
ENST00000311322 0.235
ENST00000538071 0.235
ENST00000535763 0.235
gnomAD v2:
8:19811742 G / A
gnomAD v4:
chr8-19954231-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV003283623
ClinVar Variation:
2568386
dbSNP:
754292853
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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
Search 100 bp 5'
Search 100 bp 3'