Canonical Allele Identifier: CA4655535
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 362412
ClinVar RCV Id: RCV000363410 RCV000586149 RCV000900433 RCV002411259 RCV003922625
dbSNP Id: rs140986245
ExAC: 8:19813362 G / A
gnomAD v2: 8-19813362-G-A
gnomAD v3: 8-19955851-G-A
gnomAD v4: 8-19955851-G-A
MyVariant Identifiers: chr8:g.19813362G>A (hg19) chr8:g.19955851G>A (hg38)
PubMed: PMID:22923420
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955851G>A , CM000670.2:g.19955851G>A GRCh38
NC_000008.10:g.19813362G>A , CM000670.1:g.19813362G>A GRCh37
NC_000008.9:g.19857642G>A NCBI36
NG_008855.1:g.21781G>A
NG_008855.2:g.59135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.786G>A MANE Select ENSP00000497642.1:p.Gln262=
ENST00000311322.8:c.786G>A ENSP00000309757.6:p.Gln262=
NM_000237.2:c.786G>A NP_000228.1:p.Gln262=
NM_000237.3:c.786G>A MANE Select NP_000228.1:p.Gln262=
Search 100 bp 5'
Search 100 bp 3'