Canonical Allele Identifier: CA251861

Gene: LPL

Linked Data

• ClinVar Variation Id: 1522
• ClinVar RCV Id: RCV000001586 ; RCV000521241 ; RCV000763181 ; RCV001248904 ; RCV002362549 ; RCV003415622
• dbSNP Id: rs118204057
• ExAC: 8:19811733 G / A
• gnomAD v2: 8-19811733-G-A
• gnomAD v3: 8-19954222-G-A
• gnomAD v4: 8-19954222-G-A
• MyVariant Identifiers: chr8:g.19811733G>A (hg19) ; chr8:g.19954222G>A (hg38)
• PubMed: PMID:1351946 ; PMID:1872917 ; PMID:1969408 ; PMID:1975597 ; PMID:2394828 ; PMID:2914262 ; PMID:6645961 ; PMID:11334614

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954222G>A , CM000670.2:g.19954222G>A	GRCh38
NC_000008.10:g.19811733G>A , CM000670.1:g.19811733G>A	GRCh37
NC_000008.9:g.19856013G>A	NCBI36
NG_008855.1:g.20152G>A
NG_008855.2:g.57506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.644G>A MANE Select	ENSP00000497642.1:p.Gly215Glu
ENST00000311322.8:c.644G>A	ENSP00000309757.6:p.Gly215Glu
NM_000237.2:c.644G>A	NP_000228.1:p.Gly215Glu
NM_000237.3:c.644G>A MANE Select	NP_000228.1:p.Gly215Glu