Canonical Allele Identifier: CA4655540
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1066636
ClinVar RCV Id: RCV001377680 RCV001831346 RCV002420853
dbSNP Id: rs761886494
ExAC: 8:19813381 G / A
gnomAD v2: 8-19813381-G-A
gnomAD v3: 8-19955870-G-A
gnomAD v4: 8-19955870-G-A
MyVariant Identifiers: chr8:g.19813381G>A (hg19) chr8:g.19955870G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955870G>A , CM000670.2:g.19955870G>A GRCh38
NC_000008.10:g.19813381G>A , CM000670.1:g.19813381G>A GRCh37
NC_000008.9:g.19857661G>A NCBI36
NG_008855.1:g.21800G>A
NG_008855.2:g.59154G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.805G>A MANE Select ENSP00000497642.1:p.Glu269Lys
ENST00000311322.8:c.805G>A ENSP00000309757.6:p.Glu269Lys
NM_000237.2:c.805G>A NP_000228.1:p.Glu269Lys
NM_000237.3:c.805G>A MANE Select NP_000228.1:p.Glu269Lys
Search 100 bp 5'
Search 100 bp 3'