Canonical Allele Identifier: CA173378129

Gene: LPL

Linked Data

• dbSNP Id: rs559329520
• gnomAD v2: 8-19813149-C-A
• gnomAD v3: 8-19955638-C-A
• gnomAD v4: 8-19955638-C-A
• MyVariant Identifiers: chr8:g.19813149C>A (hg19) ; chr8:g.19955638C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19955638C>A , CM000670.2:g.19955638C>A	GRCh38
NC_000008.10:g.19813149C>A , CM000670.1:g.19813149C>A	GRCh37
NC_000008.9:g.19857429C>A	NCBI36
NG_008855.1:g.21568C>A
NG_008855.2:g.58922C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.776-203C>A MANE Select	ENSP00000497642.1:n.776-203C>A
ENST00000311322.8:c.776-203C>A	ENSP00000309757.6:n.776-203C>A
NM_000237.2:c.776-203C>A	NP_000228.1:n.776-203C>A
NM_000237.3:c.776-203C>A MANE Select	NP_000228.1:n.776-203C>A