Canonical Allele Identifier: CA370467693

Gene: LPL

Linked Data

• MyVariant Identifiers: chr8:g.19809418C>G (hg19) ; chr8:g.19951907C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951907C>G , CM000670.2:g.19951907C>G	GRCh38
NC_000008.10:g.19809418C>G , CM000670.1:g.19809418C>G	GRCh37
NC_000008.9:g.19853698C>G	NCBI36
NG_008855.1:g.17837C>G
NG_008855.2:g.55191C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.388C>G MANE Select	ENSP00000497642.1:p.Leu130Val
ENST00000311322.8:c.388C>G	ENSP00000309757.6:p.Leu130Val
ENST00000520959.5:c.160C>G	ENSP00000428496.1:p.Leu54Val
ENST00000524029.5:c.388C>G
NM_000237.2:c.388C>G	NP_000228.1:p.Leu130Val
NM_000237.3:c.388C>G MANE Select	NP_000228.1:p.Leu130Val