Canonical Allele Identifier: CA10630639
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 362439
ClinVar RCV Id: RCV000345574
dbSNP Id: rs886062800
gnomAD v4: 8-19966524-G-T
MyVariant Identifiers: chr8:g.19824035G>T (hg19) chr8:g.19966524G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19966524G>T , CM000670.2:g.19966524G>T GRCh38
NC_000008.10:g.19824035G>T , CM000670.1:g.19824035G>T GRCh37
NC_000008.9:g.19868315G>T NCBI36
NG_008855.1:g.32454G>T
NG_008855.2:g.69808G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1214G>T MANE Select ENSP00000497642.1:n.*1214G>T
ENST00000650478.1:c.1582G>T ENSP00000497560.1:n.1582G>T
ENST00000311322.8:c.*1214G>T ENSP00000309757.6:n.*1214G>T
NM_000237.2:c.*1214G>T NP_000228.1:n.*1214G>T
NM_000237.3:c.*1214G>T MANE Select NP_000228.1:n.*1214G>T
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