Canonical Allele Identifier: CA4655388
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs761030314
ExAC: 8:19809378 G / A
gnomAD v2: 8-19809378-G-A
gnomAD v3: 8-19951867-G-A
gnomAD v4: 8-19951867-G-A
MyVariant Identifiers: chr8:g.19809378G>A (hg19) chr8:g.19951867G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951867G>A , CM000670.2:g.19951867G>A GRCh38
NC_000008.10:g.19809378G>A , CM000670.1:g.19809378G>A GRCh37
NC_000008.9:g.19853658G>A NCBI36
NG_008855.1:g.17797G>A
NG_008855.2:g.55151G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.348G>A MANE Select ENSP00000497642.1:p.Arg116=
ENST00000311322.8:c.348G>A ENSP00000309757.6:p.Arg116=
ENST00000520959.5:c.120G>A ENSP00000428496.1:p.Arg40=
ENST00000524029.5:c.348G>A ENSP00000428237.1:p.Arg116=
NM_000237.2:c.348G>A NP_000228.1:p.Arg116=
NM_000237.3:c.348G>A MANE Select NP_000228.1:p.Arg116=
Search 100 bp 5'
Search 100 bp 3'