Canonical Allele Identifier: CA4655383
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 362406
ClinVar RCV Id: RCV000299093 RCV002058714 RCV003362769
dbSNP Id: rs749390229
ExAC: 8:19809363 G / T
gnomAD v2: 8-19809363-G-T
gnomAD v4: 8-19951852-G-T
MyVariant Identifiers: chr8:g.19809363G>T (hg19) chr8:g.19951852G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951852G>T , CM000670.2:g.19951852G>T GRCh38
NC_000008.10:g.19809363G>T , CM000670.1:g.19809363G>T GRCh37
NC_000008.9:g.19853643G>T NCBI36
NG_008855.1:g.17782G>T
NG_008855.2:g.55136G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.333G>T MANE Select ENSP00000497642.1:p.Val111=
ENST00000311322.8:c.333G>T ENSP00000309757.6:p.Val111=
ENST00000520959.5:c.105G>T ENSP00000428496.1:p.Val35=
ENST00000524029.5:c.333G>T ENSP00000428237.1:p.Val111=
NM_000237.2:c.333G>T NP_000228.1:p.Val111=
NM_000237.3:c.333G>T MANE Select NP_000228.1:p.Val111=
Search 100 bp 5'
Search 100 bp 3'