Canonical Allele Identifier: CA173618164
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs972512374
gnomAD v3: 8-19962774-G-C
gnomAD v4: 8-19962774-G-C
MyVariant Identifiers: chr8:g.19820285G>C (hg19) chr8:g.19962774G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962774G>C , CM000670.2:g.19962774G>C GRCh38
NC_000008.10:g.19820285G>C , CM000670.1:g.19820285G>C GRCh37
NC_000008.9:g.19864565G>C NCBI36
NG_008855.1:g.28704G>C
NG_008855.2:g.66058G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1427+555G>C MANE Select ENSP00000497642.1:n.1427+555G>C
ENST00000650478.1:c.367+555G>C ENSP00000497560.1:n.367+555G>C
ENST00000311322.8:c.1427+555G>C ENSP00000309757.6:n.1427+555G>C
NM_000237.2:c.1427+555G>C NP_000228.1:n.1427+555G>C
NM_000237.3:c.1427+555G>C MANE Select NP_000228.1:n.1427+555G>C
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