Canonical Allele Identifier: CA251892
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19955863C>G
GRCh37 chr8:g.19813374C>G
Revel Score:
ENST00000311322 0.874
ENST00000538071 0.874
ENST00000535763 0.874
ClinVar RCV:
RCV000001623
ClinVar Variation:
1557
dbSNP:
118204082
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955863C>G , CM000670.2:g.19955863C>G GRCh38
NC_000008.10:g.19813374C>G , CM000670.1:g.19813374C>G GRCh37
NC_000008.9:g.19857654C>G NCBI36
NG_008855.1:g.21793C>G
NG_008855.2:g.59147C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.798C>G MANE Select ENSP00000497642.1:p.Cys266Trp
ENST00000311322.8:c.798C>G ENSP00000309757.6:p.Cys266Trp
NM_000237.2:c.798C>G NP_000228.1:p.Cys266Trp
NM_000237.3:c.798C>G MANE Select NP_000228.1:p.Cys266Trp
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