Canonical Allele Identifier: CA849563824
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1326977028
gnomAD v4: 8-19960830-G-A
MyVariant Identifiers: chr8:g.19818341G>A (hg19) chr8:g.19960830G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960830G>A , CM000670.2:g.19960830G>A GRCh38
NC_000008.10:g.19818341G>A , CM000670.1:g.19818341G>A GRCh37
NC_000008.9:g.19862621G>A NCBI36
NG_008855.1:g.26760G>A
NG_008855.2:g.64114G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1140-71G>A MANE Select ENSP00000497642.1:n.1140-71G>A
ENST00000650478.1:c.80-71G>A ENSP00000497560.1:n.80-71G>A
ENST00000311322.8:c.1140-71G>A ENSP00000309757.6:n.1140-71G>A
NM_000237.2:c.1140-71G>A NP_000228.1:n.1140-71G>A
NM_000237.3:c.1140-71G>A MANE Select NP_000228.1:n.1140-71G>A
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