Canonical Allele Identifier: CA370468361
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19954171T>G
GRCh37 chr8:g.19811682T>G
Revel Score:
ENST00000311322 0.960
ENST00000538071 0.960
ENST00000535763 0.960
ClinVar RCV:
RCV004227234
ClinVar Variation:
2389078
dbSNP:
968768346
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954171T>G , CM000670.2:g.19954171T>G GRCh38
NC_000008.10:g.19811682T>G , CM000670.1:g.19811682T>G GRCh37
NC_000008.9:g.19855962T>G NCBI36
NG_008855.1:g.20101T>G
NG_008855.2:g.57455T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.593T>G MANE Select ENSP00000497642.1:p.Leu198Arg
ENST00000311322.8:c.593T>G ENSP00000309757.6:p.Leu198Arg
NM_000237.2:c.593T>G NP_000228.1:p.Leu198Arg
NM_000237.3:c.593T>G MANE Select NP_000228.1:p.Leu198Arg
Search 100 bp 5'
Search 100 bp 3'