Canonical Allele Identifier: CA4655387
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1210341
ClinVar RCV Id: RCV001580615
dbSNP Id: rs775728208
ExAC: 8:19809377 G / A
gnomAD v2: 8-19809377-G-A
gnomAD v4: 8-19951866-G-A
MyVariant Identifiers: chr8:g.19809377G>A (hg19) chr8:g.19951866G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951866G>A , CM000670.2:g.19951866G>A GRCh38
NC_000008.10:g.19809377G>A , CM000670.1:g.19809377G>A GRCh37
NC_000008.9:g.19853657G>A NCBI36
NG_008855.1:g.17796G>A
NG_008855.2:g.55150G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.347G>A MANE Select ENSP00000497642.1:p.Arg116Gln
ENST00000311322.8:c.347G>A ENSP00000309757.6:p.Arg116Gln
ENST00000520959.5:c.119G>A ENSP00000428496.1:p.Arg40Gln
ENST00000524029.5:c.347G>A ENSP00000428237.1:p.Arg116Gln
NM_000237.2:c.347G>A NP_000228.1:p.Arg116Gln
NM_000237.3:c.347G>A MANE Select NP_000228.1:p.Arg116Gln
Search 100 bp 5'
Search 100 bp 3'