Canonical Allele Identifier: CA1111558857
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs377119575
gnomAD v3: 8-19966787-C-A
gnomAD v4: 8-19966787-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19966787C>A , CM000670.2:g.19966787C>A GRCh38
NC_000008.10:g.19824298C>A , CM000670.1:g.19824298C>A GRCh37
NC_000008.9:g.19868578C>A NCBI36
NG_008855.1:g.32717C>A
NG_008855.2:g.70071C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1477C>A MANE Select ENSP00000497642.1:n.*1477C>A
ENST00000650478.1:c.1845C>A ENSP00000497560.1:n.1845C>A
ENST00000311322.8:c.*1477C>A ENSP00000309757.6:n.*1477C>A
NM_000237.2:c.*1477C>A NP_000228.1:n.*1477C>A
NM_000237.3:c.*1477C>A MANE Select NP_000228.1:n.*1477C>A
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