Canonical Allele Identifier: CA1769101543
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2069959798
gnomAD v3: 8-19953955-C-G
gnomAD v4: 8-19953955-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19953955C>G , CM000670.2:g.19953955C>G GRCh38
NC_000008.10:g.19811466C>G , CM000670.1:g.19811466C>G GRCh37
NC_000008.9:g.19855746C>G NCBI36
NG_008855.1:g.19885C>G
NG_008855.2:g.57239C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.542-165C>G MANE Select ENSP00000497642.1:n.542-165C>G
ENST00000311322.8:c.542-165C>G ENSP00000309757.6:n.542-165C>G
ENST00000520959.5:c.314-165C>G ENSP00000428496.1:n.314-165C>G
NM_000237.2:c.542-165C>G NP_000228.1:n.542-165C>G
NM_000237.3:c.542-165C>G MANE Select NP_000228.1:n.542-165C>G
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