Canonical Allele Identifier: CA173618181

Gene: LPL

Linked Data

• dbSNP Id: rs138285812
• gnomAD v2: 8-19820410-G-A
• gnomAD v3: 8-19962899-G-A
• gnomAD v4: 8-19962899-G-A
• MyVariant Identifiers: chr8:g.19820410G>A (hg19) ; chr8:g.19962899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19962899G>A , CM000670.2:g.19962899G>A	GRCh38
NC_000008.10:g.19820410G>A , CM000670.1:g.19820410G>A	GRCh37
NC_000008.9:g.19864690G>A	NCBI36
NG_008855.1:g.28829G>A
NG_008855.2:g.66183G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.1427+680G>A MANE Select	ENSP00000497642.1:n.1427+680G>A
ENST00000650478.1:c.367+680G>A	ENSP00000497560.1:n.367+680G>A
ENST00000311322.8:c.1427+680G>A	ENSP00000309757.6:n.1427+680G>A
NM_000237.2:c.1427+680G>A	NP_000228.1:n.1427+680G>A
NM_000237.3:c.1427+680G>A MANE Select	NP_000228.1:n.1427+680G>A