Canonical Allele Identifier: CA1111551759
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2069965614
gnomAD v3: 8-19954490-A-G
gnomAD v4: 8-19954490-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954490A>G , CM000670.2:g.19954490A>G GRCh38
NC_000008.10:g.19812001A>G , CM000670.1:g.19812001A>G GRCh37
NC_000008.9:g.19856281A>G NCBI36
NG_008855.1:g.20420A>G
NG_008855.2:g.57774A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+137A>G MANE Select ENSP00000497642.1:n.775+137A>G
ENST00000311322.8:c.775+137A>G ENSP00000309757.6:n.775+137A>G
NM_000237.2:c.775+137A>G NP_000228.1:n.775+137A>G
NM_000237.3:c.775+137A>G MANE Select NP_000228.1:n.775+137A>G
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