Canonical Allele Identifier: CA580209979
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 910542
ClinVar RCV Id: RCV001162391
dbSNP Id: rs1186129642
gnomAD v2: 8-19824564-G-A
gnomAD v3: 8-19967053-G-A
gnomAD v4: 8-19967053-G-A
MyVariant Identifiers: chr8:g.19824564G>A (hg19) chr8:g.19967053G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19967053G>A , CM000670.2:g.19967053G>A GRCh38
NC_000008.10:g.19824564G>A , CM000670.1:g.19824564G>A GRCh37
NC_000008.9:g.19868844G>A NCBI36
NG_008855.1:g.32983G>A
NG_008855.2:g.70337G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.*1743G>A MANE Select ENSP00000497642.1:n.*1743G>A
ENST00000650478.1:c.2111G>A ENSP00000497560.1:n.2111G>A
ENST00000311322.8:c.*1743G>A ENSP00000309757.6:n.*1743G>A
NM_000237.2:c.*1743G>A NP_000228.1:n.*1743G>A
NM_000237.3:c.*1743G>A MANE Select NP_000228.1:n.*1743G>A
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