Canonical Allele Identifier: CA580208876
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1046599105
gnomAD v2: 8-19819438-C-G
gnomAD v3: 8-19961927-C-G
gnomAD v4: 8-19961927-C-G
MyVariant Identifiers: chr8:g.19819438C>G (hg19) chr8:g.19961927C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961927C>G , CM000670.2:g.19961927C>G GRCh38
NC_000008.10:g.19819438C>G , CM000670.1:g.19819438C>G GRCh37
NC_000008.9:g.19863718C>G NCBI36
NG_008855.1:g.27857C>G
NG_008855.2:g.65211C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1323-188C>G MANE Select ENSP00000497642.1:n.1323-188C>G
ENST00000650478.1:c.263-188C>G ENSP00000497560.1:n.263-188C>G
ENST00000311322.8:c.1323-188C>G ENSP00000309757.6:n.1323-188C>G
NM_000237.2:c.1323-188C>G NP_000228.1:n.1323-188C>G
NM_000237.3:c.1323-188C>G MANE Select NP_000228.1:n.1323-188C>G
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