Canonical Allele Identifier: CA370468999
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19955873C>G
GRCh37 chr8:g.19813384C>G
Revel Score:
ENST00000311322 0.892
ENST00000538071 0.892
ENST00000535763 0.892
ClinVar RCV:
RCV002015579
ClinVar Variation:
1500351
dbSNP:
118204077
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955873C>G , CM000670.2:g.19955873C>G GRCh38
NC_000008.10:g.19813384C>G , CM000670.1:g.19813384C>G GRCh37
NC_000008.9:g.19857664C>G NCBI36
NG_008855.1:g.21803C>G
NG_008855.2:g.59157C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.808C>G MANE Select ENSP00000497642.1:p.Arg270Gly
ENST00000311322.8:c.808C>G ENSP00000309757.6:p.Arg270Gly
NM_000237.2:c.808C>G NP_000228.1:p.Arg270Gly
NM_000237.3:c.808C>G MANE Select NP_000228.1:p.Arg270Gly
Search 100 bp 5'
Search 100 bp 3'