Canonical Allele Identifier: CA370464621

Gene: LPL

Linked Data

• dbSNP Id: rs2069809872
• gnomAD v3: 8-19939457-T-G
• gnomAD v4: 8-19939457-T-G
• MyVariant Identifiers: chr8:g.19796968T>G (hg19) ; chr8:g.19939457T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939457T>G , CM000670.2:g.19939457T>G	GRCh38
NC_000008.10:g.19796968T>G , CM000670.1:g.19796968T>G	GRCh37
NC_000008.9:g.19841248T>G	NCBI36
NG_008855.1:g.5387T>G
NG_008855.2:g.42741T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.17T>G MANE Select	ENSP00000497642.1:p.Leu6Arg
ENST00000311322.8:c.17T>G	ENSP00000309757.6:p.Leu6Arg
ENST00000519773.1:c.17T>G	ENSP00000431028.1:p.Leu6Arg
ENST00000520959.5:c.-140-8723T>G	ENSP00000428496.1:n.-140-8723T>G
ENST00000521994.1:n.202T>G
ENST00000522701.5:c.17T>G	ENSP00000428557.1:p.Leu6Arg
ENST00000523696.1:n.86T>G
ENST00000524029.5:c.17T>G	ENSP00000428237.1:p.Leu6Arg
NM_000237.2:c.17T>G	NP_000228.1:p.Leu6Arg
NM_000237.3:c.17T>G MANE Select	NP_000228.1:p.Leu6Arg