Canonical Allele Identifier: CA370468487

Gene: LPL

Linked Data

• gnomAD v4: 8-19954233-C-G
• MyVariant Identifiers: chr8:g.19811744C>G (hg19) ; chr8:g.19954233C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954233C>G , CM000670.2:g.19954233C>G	GRCh38
NC_000008.10:g.19811744C>G , CM000670.1:g.19811744C>G	GRCh37
NC_000008.9:g.19856024C>G	NCBI36
NG_008855.1:g.20163C>G
NG_008855.2:g.57517C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.655C>G MANE Select	ENSP00000497642.1:p.Arg219Gly
ENST00000311322.8:c.655C>G	ENSP00000309757.6:p.Arg219Gly
NM_000237.2:c.655C>G	NP_000228.1:p.Arg219Gly
NM_000237.3:c.655C>G MANE Select	NP_000228.1:p.Arg219Gly