Canonical Allele Identifier: CA370468942
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs138065727
gnomAD v2: 8-19813359-C-A
gnomAD v3: 8-19955848-C-A
gnomAD v4: 8-19955848-C-A
MyVariant Identifiers: chr8:g.19813359C>A (hg19) chr8:g.19955848C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955848C>A , CM000670.2:g.19955848C>A GRCh38
NC_000008.10:g.19813359C>A , CM000670.1:g.19813359C>A GRCh37
NC_000008.9:g.19857639C>A NCBI36
NG_008855.1:g.21778C>A
NG_008855.2:g.59132C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.783C>A MANE Select ENSP00000497642.1:p.Asp261Glu
ENST00000311322.8:c.783C>A ENSP00000309757.6:p.Asp261Glu
NM_000237.2:c.783C>A NP_000228.1:p.Asp261Glu
NM_000237.3:c.783C>A MANE Select NP_000228.1:p.Asp261Glu
Search 100 bp 5'
Search 100 bp 3'