Canonical Allele Identifier: CA370464634

Gene: LPL

Linked Data

• gnomAD v4: 8-19939465-C-G
• MyVariant Identifiers: chr8:g.19796976C>G (hg19) ; chr8:g.19939465C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939465C>G , CM000670.2:g.19939465C>G	GRCh38
NC_000008.10:g.19796976C>G , CM000670.1:g.19796976C>G	GRCh37
NC_000008.9:g.19841256C>G	NCBI36
NG_008855.1:g.5395C>G
NG_008855.2:g.42749C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.25C>G MANE Select	ENSP00000497642.1:p.Leu9Val
ENST00000311322.8:c.25C>G	ENSP00000309757.6:p.Leu9Val
ENST00000519773.1:c.25C>G	ENSP00000431028.1:p.Leu9Val
ENST00000520959.5:c.-140-8715C>G	ENSP00000428496.1:n.-140-8715C>G
ENST00000521994.1:n.210C>G
ENST00000522701.5:c.25C>G	ENSP00000428557.1:p.Leu9Val
ENST00000523696.1:n.94C>G
ENST00000524029.5:c.25C>G	ENSP00000428237.1:p.Leu9Val
NM_000237.2:c.25C>G	NP_000228.1:p.Leu9Val
NM_000237.3:c.25C>G MANE Select	NP_000228.1:p.Leu9Val