Canonical Allele Identifier: CA1111574529
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2069940614
gnomAD v3: 8-19952194-G-A
gnomAD v4: 8-19952194-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19952194G>A , CM000670.2:g.19952194G>A GRCh38
NC_000008.10:g.19809705G>A , CM000670.1:g.19809705G>A GRCh37
NC_000008.9:g.19853985G>A NCBI36
NG_008855.1:g.18124G>A
NG_008855.2:g.55478G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.429+246G>A MANE Select ENSP00000497642.1:n.429+246G>A
ENST00000311322.8:c.429+246G>A ENSP00000309757.6:n.429+246G>A
ENST00000520959.5:c.201+246G>A ENSP00000428496.1:n.201+246G>A
NM_000237.2:c.429+246G>A NP_000228.1:n.429+246G>A
NM_000237.3:c.429+246G>A MANE Select NP_000228.1:n.429+246G>A
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