Canonical Allele Identifier: CA1111574511
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs990699375
gnomAD v3: 8-19952162-C-A
gnomAD v4: 8-19952162-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19952162C>A , CM000670.2:g.19952162C>A GRCh38
NC_000008.10:g.19809673C>A , CM000670.1:g.19809673C>A GRCh37
NC_000008.9:g.19853953C>A NCBI36
NG_008855.1:g.18092C>A
NG_008855.2:g.55446C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.429+214C>A MANE Select ENSP00000497642.1:n.429+214C>A
ENST00000311322.8:c.429+214C>A ENSP00000309757.6:n.429+214C>A
ENST00000520959.5:c.201+214C>A ENSP00000428496.1:n.201+214C>A
NM_000237.2:c.429+214C>A NP_000228.1:n.429+214C>A
NM_000237.3:c.429+214C>A MANE Select NP_000228.1:n.429+214C>A
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