Canonical Allele Identifier: CA173618765
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 910544
ClinVar RCV Id: RCV001162393
dbSNP Id: rs894550368
gnomAD v3: 8-19967098-T-C
gnomAD v4: 8-19967098-T-C
MyVariant Identifiers: chr8:g.19824609T>C (hg19) chr8:g.19967098T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19967098T>C , CM000670.2:g.19967098T>C GRCh38
NC_000008.10:g.19824609T>C , CM000670.1:g.19824609T>C GRCh37
NC_000008.9:g.19868889T>C NCBI36
NG_008855.1:g.33028T>C
NG_008855.2:g.70382T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1788T>C MANE Select ENSP00000497642.1:n.*1788T>C
ENST00000650478.1:c.2156T>C ENSP00000497560.1:n.2156T>C
ENST00000311322.8:c.*1788T>C ENSP00000309757.6:n.*1788T>C
NM_000237.2:c.*1788T>C NP_000228.1:n.*1788T>C
NM_000237.3:c.*1788T>C MANE Select NP_000228.1:n.*1788T>C
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