Canonical Allele Identifier: CA4655536
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1761073
ClinVar RCV Id: RCV002416605
dbSNP Id: rs775606162
ExAC: 8:19813365 A / G
gnomAD v2: 8-19813365-A-G
gnomAD v3: 8-19955854-A-G
gnomAD v4: 8-19955854-A-G
COSMIC: COSM3768755
MyVariant Identifiers: chr8:g.19813365A>G (hg19) chr8:g.19955854A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955854A>G , CM000670.2:g.19955854A>G GRCh38
NC_000008.10:g.19813365A>G , CM000670.1:g.19813365A>G GRCh37
NC_000008.9:g.19857645A>G NCBI36
NG_008855.1:g.21784A>G
NG_008855.2:g.59138A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.789A>G MANE Select ENSP00000497642.1:p.Leu263=
ENST00000311322.8:c.789A>G ENSP00000309757.6:p.Leu263=
NM_000237.2:c.789A>G NP_000228.1:p.Leu263=
NM_000237.3:c.789A>G MANE Select NP_000228.1:p.Leu263=
Search 100 bp 5'
Search 100 bp 3'