Canonical Allele Identifier: CA370468705

Gene: LPL

Linked Data

• MyVariant Identifiers: chr8:g.19811835T>G (hg19) ; chr8:g.19954324T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954324T>G , CM000670.2:g.19954324T>G	GRCh38
NC_000008.10:g.19811835T>G , CM000670.1:g.19811835T>G	GRCh37
NC_000008.9:g.19856115T>G	NCBI36
NG_008855.1:g.20254T>G
NG_008855.2:g.57608T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.746T>G MANE Select	ENSP00000497642.1:p.Ile249Ser
ENST00000311322.8:c.746T>G	ENSP00000309757.6:p.Ile249Ser
NM_000237.2:c.746T>G	NP_000228.1:p.Ile249Ser
NM_000237.3:c.746T>G MANE Select	NP_000228.1:p.Ile249Ser