Canonical Allele Identifier: CA173618053
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs182033043
gnomAD v2: 8-19819213-C-A
gnomAD v3: 8-19961702-C-A
gnomAD v4: 8-19961702-C-A
MyVariant Identifiers: chr8:g.19819213C>A (hg19) chr8:g.19819213_19819217delinsAAAAA (hg19) chr8:g.19961702C>A (hg38) chr8:g.19961702_19961706delinsAAAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961702C>A , CM000670.2:g.19961702C>A GRCh38
NC_000008.10:g.19819213C>A , CM000670.1:g.19819213C>A GRCh37
NC_000008.9:g.19863493C>A NCBI36
NG_008855.1:g.27632C>A
NG_008855.2:g.64986C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1323-413C>A MANE Select ENSP00000497642.1:n.1323-413C>A
ENST00000650478.1:c.263-413C>A ENSP00000497560.1:n.263-413C>A
ENST00000311322.8:c.1323-413C>A ENSP00000309757.6:n.1323-413C>A
NM_000237.2:c.1323-413C>A NP_000228.1:n.1323-413C>A
NM_000237.3:c.1323-413C>A MANE Select NP_000228.1:n.1323-413C>A
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