Canonical Allele Identifier: CA173376553
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1053449371
gnomAD v2: 8-19809700-C-G
gnomAD v3: 8-19952189-C-G
gnomAD v4: 8-19952189-C-G
MyVariant Identifiers: chr8:g.19809700C>G (hg19) chr8:g.19952189C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19952189C>G , CM000670.2:g.19952189C>G GRCh38
NC_000008.10:g.19809700C>G , CM000670.1:g.19809700C>G GRCh37
NC_000008.9:g.19853980C>G NCBI36
NG_008855.1:g.18119C>G
NG_008855.2:g.55473C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.429+241C>G MANE Select ENSP00000497642.1:n.429+241C>G
ENST00000311322.8:c.429+241C>G ENSP00000309757.6:n.429+241C>G
ENST00000520959.5:c.201+241C>G ENSP00000428496.1:n.201+241C>G
NM_000237.2:c.429+241C>G NP_000228.1:n.429+241C>G
NM_000237.3:c.429+241C>G MANE Select NP_000228.1:n.429+241C>G
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