Canonical Allele Identifier: CA4655542

Gene: LPL

Linked Data

• ClinVar Variation Id: 2136643
• ClinVar RCV Id: RCV003062155 ; RCV003314049
• dbSNP Id: rs773407951
• ExAC: 8:19813394 A / G
• gnomAD v2: 8-19813394-A-G
• gnomAD v3: 8-19955883-A-G
• gnomAD v4: 8-19955883-A-G
• MyVariant Identifiers: chr8:g.19813394A>G (hg19) ; chr8:g.19955883A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19955883A>G , CM000670.2:g.19955883A>G	GRCh38
NC_000008.10:g.19813394A>G , CM000670.1:g.19813394A>G	GRCh37
NC_000008.9:g.19857674A>G	NCBI36
NG_008855.1:g.21813A>G
NG_008855.2:g.59167A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.818A>G MANE Select	ENSP00000497642.1:p.His273Arg
ENST00000311322.8:c.818A>G	ENSP00000309757.6:p.His273Arg
NM_000237.2:c.818A>G	NP_000228.1:p.His273Arg
NM_000237.3:c.818A>G MANE Select	NP_000228.1:p.His273Arg