Canonical Allele Identifier: CA2686360140
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19951763-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951763C>G , CM000670.2:g.19951763C>G GRCh38
NC_000008.10:g.19809274C>G , CM000670.1:g.19809274C>G GRCh37
NC_000008.9:g.19853554C>G NCBI36
NG_008855.1:g.17693C>G
NG_008855.2:g.55047C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.250-6C>G MANE Select ENSP00000497642.1:n.250-6C>G
ENST00000311322.8:c.250-6C>G ENSP00000309757.6:n.250-6C>G
ENST00000520959.5:c.22-6C>G ENSP00000428496.1:n.22-6C>G
ENST00000521994.1:n.501C>G
ENST00000522701.5:c.250-6C>G ENSP00000428557.1:n.250-6C>G
ENST00000524029.5:c.250-6C>G ENSP00000428237.1:n.250-6C>G
NM_000237.2:c.250-6C>G NP_000228.1:n.250-6C>G
NM_000237.3:c.250-6C>G MANE Select NP_000228.1:n.250-6C>G
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