Canonical Allele Identifier: CA4655366
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1132346
ClinVar RCV Id: RCV001466528
dbSNP Id: rs368802342
ExAC: 8:19809274 C / T
gnomAD v2: 8-19809274-C-T
gnomAD v3: 8-19951763-C-T
gnomAD v4: 8-19951763-C-T
MyVariant Identifiers: chr8:g.19809274C>T (hg19) chr8:g.19951763C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951763C>T , CM000670.2:g.19951763C>T GRCh38
NC_000008.10:g.19809274C>T , CM000670.1:g.19809274C>T GRCh37
NC_000008.9:g.19853554C>T NCBI36
NG_008855.1:g.17693C>T
NG_008855.2:g.55047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.250-6C>T MANE Select ENSP00000497642.1:n.250-6C>T
ENST00000311322.8:c.250-6C>T ENSP00000309757.6:n.250-6C>T
ENST00000520959.5:c.22-6C>T ENSP00000428496.1:n.22-6C>T
ENST00000521994.1:n.501C>T
ENST00000522701.5:c.250-6C>T ENSP00000428557.1:n.250-6C>T
ENST00000524029.5:c.250-6C>T ENSP00000428237.1:n.250-6C>T
NM_000237.2:c.250-6C>T NP_000228.1:n.250-6C>T
NM_000237.3:c.250-6C>T MANE Select NP_000228.1:n.250-6C>T
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