Canonical Allele Identifier: CA370468622
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19954297-A-T
MyVariant Identifiers: chr8:g.19811808A>T (hg19) chr8:g.19954297A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954297A>T , CM000670.2:g.19954297A>T GRCh38
NC_000008.10:g.19811808A>T , CM000670.1:g.19811808A>T GRCh37
NC_000008.9:g.19856088A>T NCBI36
NG_008855.1:g.20227A>T
NG_008855.2:g.57581A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.719A>T MANE Select ENSP00000497642.1:p.Gln240Leu
ENST00000311322.8:c.719A>T ENSP00000309757.6:p.Gln240Leu
NM_000237.2:c.719A>T NP_000228.1:p.Gln240Leu
NM_000237.3:c.719A>T MANE Select NP_000228.1:p.Gln240Leu
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