Canonical Allele Identifier: CA370468696
Gene: LPL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.19811834A>C (hg19) chr8:g.19954323A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954323A>C , CM000670.2:g.19954323A>C GRCh38
NC_000008.10:g.19811834A>C , CM000670.1:g.19811834A>C GRCh37
NC_000008.9:g.19856114A>C NCBI36
NG_008855.1:g.20253A>C
NG_008855.2:g.57607A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.745A>C MANE Select ENSP00000497642.1:p.Ile249Leu
ENST00000311322.8:c.745A>C ENSP00000309757.6:p.Ile249Leu
NM_000237.2:c.745A>C NP_000228.1:p.Ile249Leu
NM_000237.3:c.745A>C MANE Select NP_000228.1:p.Ile249Leu
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