Canonical Allele Identifier: CA370468541

Gene: LPL

Linked Data

• dbSNP Id: rs528243561
• MyVariant Identifiers: chr8:g.19811769T>A (hg19) ; chr8:g.19954258T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954258T>A , CM000670.2:g.19954258T>A	GRCh38
NC_000008.10:g.19811769T>A , CM000670.1:g.19811769T>A	GRCh37
NC_000008.9:g.19856049T>A	NCBI36
NG_008855.1:g.20188T>A
NG_008855.2:g.57542T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.680T>A MANE Select	ENSP00000497642.1:p.Val227Asp
ENST00000311322.8:c.680T>A	ENSP00000309757.6:p.Val227Asp
NM_000237.2:c.680T>A	NP_000228.1:p.Val227Asp
NM_000237.3:c.680T>A MANE Select	NP_000228.1:p.Val227Asp