Canonical Allele Identifier: CA4655688

Gene: LPL

Linked Data

• ClinVar Variation Id: 362414
• ClinVar RCV Id: RCV000586674 ; RCV000328685 ; RCV002282126 ; RCV002374601
• dbSNP Id: rs5934
• ExAC: 8:19818551 G / A
• gnomAD v2: 8-19818551-G-A
• gnomAD v3: 8-19961040-G-A
• gnomAD v4: 8-19961040-G-A
• MyVariant Identifiers: chr8:g.19818551G>A (hg19) ; chr8:g.19961040G>A (hg38)
• PubMed: PMID:22239554 ; PMID:25966443 ; PMID:26342331

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19961040G>A , CM000670.2:g.19961040G>A	GRCh38
NC_000008.10:g.19818551G>A , CM000670.1:g.19818551G>A	GRCh37
NC_000008.9:g.19862831G>A	NCBI36
NG_008855.1:g.26970G>A
NG_008855.2:g.64324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.1279G>A MANE Select	ENSP00000497642.1:p.Ala427Thr
ENST00000650478.1:c.219G>A	ENSP00000497560.1:n.219G>A
ENST00000311322.8:c.1279G>A	ENSP00000309757.6:p.Ala427Thr
NM_000237.2:c.1279G>A	NP_000228.1:p.Ala427Thr
NM_000237.3:c.1279G>A MANE Select	NP_000228.1:p.Ala427Thr