Canonical Allele Identifier: CA370467604
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1378181661
gnomAD v3: 8-19951863-C-T
gnomAD v4: 8-19951863-C-T
MyVariant Identifiers: chr8:g.19809374C>T (hg19) chr8:g.19951863C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951863C>T , CM000670.2:g.19951863C>T GRCh38
NC_000008.10:g.19809374C>T , CM000670.1:g.19809374C>T GRCh37
NC_000008.9:g.19853654C>T NCBI36
NG_008855.1:g.17793C>T
NG_008855.2:g.55147C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.344C>T MANE Select ENSP00000497642.1:p.Ser115Leu
ENST00000311322.8:c.344C>T ENSP00000309757.6:p.Ser115Leu
ENST00000520959.5:c.116C>T ENSP00000428496.1:p.Ser39Leu
ENST00000524029.5:c.344C>T ENSP00000428237.1:p.Ser115Leu
NM_000237.2:c.344C>T NP_000228.1:p.Ser115Leu
NM_000237.3:c.344C>T MANE Select NP_000228.1:p.Ser115Leu
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