Canonical Allele Identifier: CA4655373

Gene: LPL

Linked Data

• ClinVar Variation Id: 765755
• ClinVar RCV Id: RCV000944208 ; RCV001272628 ; RCV002434302
• dbSNP Id: rs551959021
• ExAC: 8:19809306 G / A
• gnomAD v2: 8-19809306-G-A
• gnomAD v3: 8-19951795-G-A
• gnomAD v4: 8-19951795-G-A
• MyVariant Identifiers: chr8:g.19809306G>A (hg19) ; chr8:g.19951795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951795G>A , CM000670.2:g.19951795G>A	GRCh38
NC_000008.10:g.19809306G>A , CM000670.1:g.19809306G>A	GRCh37
NC_000008.9:g.19853586G>A	NCBI36
NG_008855.1:g.17725G>A
NG_008855.2:g.55079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.276G>A MANE Select	ENSP00000497642.1:p.Val92=
ENST00000311322.8:c.276G>A	ENSP00000309757.6:p.Val92=
ENST00000520959.5:c.48G>A	ENSP00000428496.1:p.Val16=
ENST00000521994.1:n.533G>A
ENST00000522701.5:c.276G>A	ENSP00000428557.1:p.Val92=
ENST00000524029.5:c.276G>A	ENSP00000428237.1:p.Val92=
NM_000237.2:c.276G>A	NP_000228.1:p.Val92=
NM_000237.3:c.276G>A MANE Select	NP_000228.1:p.Val92=