Canonical Allele Identifier: CA251861
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19954222G>A
GRCh37 chr8:g.19811733G>A
Revel Score:
ENST00000311322 0.705
ENST00000538071 0.705
ENST00000535763 0.705
gnomAD v2:
8:19811733 G / A
gnomAD v3:
8:19954222 G / A
gnomAD v4:
chr8-19954222-G-A
Joint Max Group AF 0.00040425 (NFE)
Genomes Max Group AF 0.00035401 (AMR)
Exomes Max Group AF 0.00041186 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954222G>A , CM000670.2:g.19954222G>A GRCh38
NC_000008.10:g.19811733G>A , CM000670.1:g.19811733G>A GRCh37
NC_000008.9:g.19856013G>A NCBI36
NG_008855.1:g.20152G>A
NG_008855.2:g.57506G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.644G>A MANE Select ENSP00000497642.1:p.Gly215Glu
ENST00000311322.8:c.644G>A ENSP00000309757.6:p.Gly215Glu
NM_000237.2:c.644G>A NP_000228.1:p.Gly215Glu
NM_000237.3:c.644G>A MANE Select NP_000228.1:p.Gly215Glu
Search 100 bp 5'
Search 100 bp 3'