Canonical Allele Identifier: CA4655516
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2885431
ClinVar RCV Id: RCV003717262
dbSNP Id: rs772205103
ExAC: 8:19811884 G / A
gnomAD v2: 8-19811884-G-A
gnomAD v3: 8-19954373-G-A
gnomAD v4: 8-19954373-G-A
MyVariant Identifiers: chr8:g.19811884G>A (hg19) chr8:g.19954373G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954373G>A , CM000670.2:g.19954373G>A GRCh38
NC_000008.10:g.19811884G>A , CM000670.1:g.19811884G>A GRCh37
NC_000008.9:g.19856164G>A NCBI36
NG_008855.1:g.20303G>A
NG_008855.2:g.57657G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+20G>A MANE Select ENSP00000497642.1:n.775+20G>A
ENST00000311322.8:c.775+20G>A ENSP00000309757.6:n.775+20G>A
NM_000237.2:c.775+20G>A NP_000228.1:n.775+20G>A
NM_000237.3:c.775+20G>A MANE Select NP_000228.1:n.775+20G>A
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