Canonical Allele Identifier: CA4655544

Gene: LPL

Linked Data

• ClinVar Variation Id: 718076
• ClinVar RCV Id: RCV000890967 ; RCV002427246
• dbSNP Id: rs766760812
• ExAC: 8:19813404 C / T
• gnomAD v2: 8-19813404-C-T
• gnomAD v4: 8-19955893-C-T
• COSMIC: COSM3898689
• MyVariant Identifiers: chr8:g.19813404C>T (hg19) ; chr8:g.19955893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19955893C>T , CM000670.2:g.19955893C>T	GRCh38
NC_000008.10:g.19813404C>T , CM000670.1:g.19813404C>T	GRCh37
NC_000008.9:g.19857684C>T	NCBI36
NG_008855.1:g.21823C>T
NG_008855.2:g.59177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.828C>T MANE Select	ENSP00000497642.1:p.Ile276=
ENST00000311322.8:c.828C>T	ENSP00000309757.6:p.Ile276=
NM_000237.2:c.828C>T	NP_000228.1:p.Ile276=
NM_000237.3:c.828C>T MANE Select	NP_000228.1:p.Ile276=