Canonical Allele Identifier: CA370469022

Gene: LPL

Linked Data

• gnomAD v4: 8-19955885-C-G
• MyVariant Identifiers: chr8:g.19813396C>G (hg19) ; chr8:g.19955885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19955885C>G , CM000670.2:g.19955885C>G	GRCh38
NC_000008.10:g.19813396C>G , CM000670.1:g.19813396C>G	GRCh37
NC_000008.9:g.19857676C>G	NCBI36
NG_008855.1:g.21815C>G
NG_008855.2:g.59169C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.820C>G MANE Select	ENSP00000497642.1:p.Leu274Val
ENST00000311322.8:c.820C>G	ENSP00000309757.6:p.Leu274Val
NM_000237.2:c.820C>G	NP_000228.1:p.Leu274Val
NM_000237.3:c.820C>G MANE Select	NP_000228.1:p.Leu274Val