Canonical Allele Identifier: CA10627423
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 362447
ClinVar RCV Id: RCV000299090
dbSNP Id: rs562346489
gnomAD v2: 8-19824481-G-A
gnomAD v3: 8-19966970-G-A
gnomAD v4: 8-19966970-G-A
MyVariant Identifiers: chr8:g.19824481G>A (hg19) chr8:g.19966970G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19966970G>A , CM000670.2:g.19966970G>A GRCh38
NC_000008.10:g.19824481G>A , CM000670.1:g.19824481G>A GRCh37
NC_000008.9:g.19868761G>A NCBI36
NG_008855.1:g.32900G>A
NG_008855.2:g.70254G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1660G>A MANE Select ENSP00000497642.1:n.*1660G>A
ENST00000650478.1:c.2028G>A ENSP00000497560.1:n.2028G>A
ENST00000311322.8:c.*1660G>A ENSP00000309757.6:n.*1660G>A
NM_000237.2:c.*1660G>A NP_000228.1:n.*1660G>A
NM_000237.3:c.*1660G>A MANE Select NP_000228.1:n.*1660G>A
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