Canonical Allele Identifier: CA580209097
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1485351296
gnomAD v2: 8-19820284-A-G
gnomAD v3: 8-19962773-A-G
gnomAD v4: 8-19962773-A-G
MyVariant Identifiers: chr8:g.19820284A>G (hg19) chr8:g.19962773A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962773A>G , CM000670.2:g.19962773A>G GRCh38
NC_000008.10:g.19820284A>G , CM000670.1:g.19820284A>G GRCh37
NC_000008.9:g.19864564A>G NCBI36
NG_008855.1:g.28703A>G
NG_008855.2:g.66057A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1427+554A>G MANE Select ENSP00000497642.1:n.1427+554A>G
ENST00000650478.1:c.367+554A>G ENSP00000497560.1:n.367+554A>G
ENST00000311322.8:c.1427+554A>G ENSP00000309757.6:n.1427+554A>G
NM_000237.2:c.1427+554A>G NP_000228.1:n.1427+554A>G
NM_000237.3:c.1427+554A>G MANE Select NP_000228.1:n.1427+554A>G
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