Canonical Allele Identifier: CA251873

Gene: LPL

Linked Data

• ClinVar Variation Id: 1536
• ClinVar RCV Id: RCV000001600 ; RCV002453245
• dbSNP Id: rs118204065
• ExAC: 8:19809294 T / A
• gnomAD v2: 8-19809294-T-A
• gnomAD v4: 8-19951783-T-A
• MyVariant Identifiers: chr8:g.19809294T>A (hg19) ; chr8:g.19951783T>A (hg38)
• PubMed: PMID:1562620 ; PMID:1752947

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951783T>A , CM000670.2:g.19951783T>A	GRCh38
NC_000008.10:g.19809294T>A , CM000670.1:g.19809294T>A	GRCh37
NC_000008.9:g.19853574T>A	NCBI36
NG_008855.1:g.17713T>A
NG_008855.2:g.55067T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.264T>A MANE Select	ENSP00000497642.1:p.Tyr88Ter
ENST00000311322.8:c.264T>A	ENSP00000309757.6:p.Tyr88Ter
ENST00000520959.5:c.36T>A	ENSP00000428496.1:p.Tyr12Ter
ENST00000521994.1:n.521T>A
ENST00000522701.5:c.264T>A	ENSP00000428557.1:p.Tyr88Ter
ENST00000524029.5:c.264T>A	ENSP00000428237.1:p.Tyr88Ter
NM_000237.2:c.264T>A	NP_000228.1:p.Tyr88Ter
NM_000237.3:c.264T>A MANE Select	NP_000228.1:p.Tyr88Ter