Canonical Allele Identifier: CA370468702
Gene: LPL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.19811835T>A (hg19) chr8:g.19954324T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954324T>A , CM000670.2:g.19954324T>A GRCh38
NC_000008.10:g.19811835T>A , CM000670.1:g.19811835T>A GRCh37
NC_000008.9:g.19856115T>A NCBI36
NG_008855.1:g.20254T>A
NG_008855.2:g.57608T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.746T>A MANE Select ENSP00000497642.1:p.Ile249Asn
ENST00000311322.8:c.746T>A ENSP00000309757.6:p.Ile249Asn
NM_000237.2:c.746T>A NP_000228.1:p.Ile249Asn
NM_000237.3:c.746T>A MANE Select NP_000228.1:p.Ile249Asn
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