Canonical Allele Identifier: CA1111552291
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2069978311
gnomAD v3: 8-19955728-T-G
gnomAD v4: 8-19955728-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955728T>G , CM000670.2:g.19955728T>G GRCh38
NC_000008.10:g.19813239T>G , CM000670.1:g.19813239T>G GRCh37
NC_000008.9:g.19857519T>G NCBI36
NG_008855.1:g.21658T>G
NG_008855.2:g.59012T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.776-113T>G MANE Select ENSP00000497642.1:n.776-113T>G
ENST00000311322.8:c.776-113T>G ENSP00000309757.6:n.776-113T>G
NM_000237.2:c.776-113T>G NP_000228.1:n.776-113T>G
NM_000237.3:c.776-113T>G MANE Select NP_000228.1:n.776-113T>G
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