Canonical Allele Identifier: CA251871
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19953386G>A
GRCh37 chr8:g.19810897G>A
Revel Score:
ENST00000520959 0.943
ENST00000311322 0.943
ENST00000538071 0.943
ENST00000535763 0.943
gnomAD v2:
8:19810897 G / A
gnomAD v4:
chr8-19953386-G-A
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000001596
ClinVar Variation:
1532
dbSNP:
118204063
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19953386G>A , CM000670.2:g.19953386G>A GRCh38
NC_000008.10:g.19810897G>A , CM000670.1:g.19810897G>A GRCh37
NC_000008.9:g.19855177G>A NCBI36
NG_008855.1:g.19316G>A
NG_008855.2:g.56670G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.506G>A MANE Select ENSP00000497642.1:p.Gly169Glu
ENST00000311322.8:c.506G>A ENSP00000309757.6:p.Gly169Glu
ENST00000520959.5:c.278G>A ENSP00000428496.1:p.Gly93Glu
NM_000237.2:c.506G>A NP_000228.1:p.Gly169Glu
NM_000237.3:c.506G>A MANE Select NP_000228.1:p.Gly169Glu
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