Canonical Allele Identifier: CA10627411
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 362444
ClinVar RCV Id: RCV000302261
dbSNP Id: rs373828745
gnomAD v2: 8-19824129-G-C
gnomAD v3: 8-19966618-G-C
gnomAD v4: 8-19966618-G-C
MyVariant Identifiers: chr8:g.19824129G>C (hg19) chr8:g.19966618G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19966618G>C , CM000670.2:g.19966618G>C GRCh38
NC_000008.10:g.19824129G>C , CM000670.1:g.19824129G>C GRCh37
NC_000008.9:g.19868409G>C NCBI36
NG_008855.1:g.32548G>C
NG_008855.2:g.69902G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1308G>C MANE Select ENSP00000497642.1:n.*1308G>C
ENST00000650478.1:c.1676G>C ENSP00000497560.1:n.1676G>C
ENST00000311322.8:c.*1308G>C ENSP00000309757.6:n.*1308G>C
NM_000237.2:c.*1308G>C NP_000228.1:n.*1308G>C
NM_000237.3:c.*1308G>C MANE Select NP_000228.1:n.*1308G>C
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