Canonical Allele Identifier: CA4655474

Gene: LPL

Linked Data

• ClinVar Variation Id: 1151632
• ClinVar RCV Id: RCV001492629 ; RCV002359103
• dbSNP Id: rs563135472
• ExAC: 8:19811674 G / A
• gnomAD v2: 8-19811674-G-A
• gnomAD v3: 8-19954163-G-A
• gnomAD v4: 8-19954163-G-A
• MyVariant Identifiers: chr8:g.19811674G>A (hg19) ; chr8:g.19954163G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954163G>A , CM000670.2:g.19954163G>A	GRCh38
NC_000008.10:g.19811674G>A , CM000670.1:g.19811674G>A	GRCh37
NC_000008.9:g.19855954G>A	NCBI36
NG_008855.1:g.20093G>A
NG_008855.2:g.57447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.585G>A MANE Select	ENSP00000497642.1:p.Pro195=
ENST00000311322.8:c.585G>A	ENSP00000309757.6:p.Pro195=
NM_000237.2:c.585G>A	NP_000228.1:p.Pro195=
NM_000237.3:c.585G>A MANE Select	NP_000228.1:p.Pro195=