Canonical Allele Identifier: CA251882
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19954174C>G
GRCh37 chr8:g.19811685C>G
Revel Score:
ENST00000311322 0.791
ENST00000538071 0.791
ENST00000535763 0.791
ClinVar RCV:
RCV000001609
ClinVar Variation:
1544
dbSNP:
118204072
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954174C>G , CM000670.2:g.19954174C>G GRCh38
NC_000008.10:g.19811685C>G , CM000670.1:g.19811685C>G GRCh37
NC_000008.9:g.19855965C>G NCBI36
NG_008855.1:g.20104C>G
NG_008855.2:g.57458C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.596C>G MANE Select ENSP00000497642.1:p.Ser199Cys
ENST00000311322.8:c.596C>G ENSP00000309757.6:p.Ser199Cys
NM_000237.2:c.596C>G NP_000228.1:p.Ser199Cys
NM_000237.3:c.596C>G MANE Select NP_000228.1:p.Ser199Cys
Search 100 bp 5'
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