Canonical Allele Identifier: CA459879695
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1766794
ClinVar RCV Id: RCV002373880
dbSNP Id: rs1448213640
gnomAD v2: 8-19813515-G-A
gnomAD v3: 8-19956004-G-A
gnomAD v4: 8-19956004-G-A
MyVariant Identifiers: chr8:g.19813515G>A (hg19) chr8:g.19956004G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19956004G>A , CM000670.2:g.19956004G>A GRCh38
NC_000008.10:g.19813515G>A , CM000670.1:g.19813515G>A GRCh37
NC_000008.9:g.19857795G>A NCBI36
NG_008855.1:g.21934G>A
NG_008855.2:g.59288G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.939G>A MANE Select ENSP00000497642.1:p.Leu313=
ENST00000311322.8:c.939G>A ENSP00000309757.6:p.Leu313=
NM_000237.2:c.939G>A NP_000228.1:p.Leu313=
NM_000237.3:c.939G>A MANE Select NP_000228.1:p.Leu313=
Search 100 bp 5'
Search 100 bp 3'