Canonical Allele Identifier: CA173377716
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs74382962
gnomAD v2: 8-19812023-G-C
gnomAD v3: 8-19954512-G-C
gnomAD v4: 8-19954512-G-C
MyVariant Identifiers: chr8:g.19812023G>C (hg19) chr8:g.19954512G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954512G>C , CM000670.2:g.19954512G>C GRCh38
NC_000008.10:g.19812023G>C , CM000670.1:g.19812023G>C GRCh37
NC_000008.9:g.19856303G>C NCBI36
NG_008855.1:g.20442G>C
NG_008855.2:g.57796G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+159G>C MANE Select ENSP00000497642.1:n.775+159G>C
ENST00000311322.8:c.775+159G>C ENSP00000309757.6:n.775+159G>C
NM_000237.2:c.775+159G>C NP_000228.1:n.775+159G>C
NM_000237.3:c.775+159G>C MANE Select NP_000228.1:n.775+159G>C
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