Canonical Allele Identifier: CA4655506
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1625202
ClinVar RCV Id: RCV002106672 RCV002391298
dbSNP Id: rs373989588
ExAC: 8:19811839 C / T
gnomAD v2: 8-19811839-C-T
gnomAD v3: 8-19954328-C-T
gnomAD v4: 8-19954328-C-T
MyVariant Identifiers: chr8:g.19811839C>T (hg19) chr8:g.19954328C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954328C>T , CM000670.2:g.19954328C>T GRCh38
NC_000008.10:g.19811839C>T , CM000670.1:g.19811839C>T GRCh37
NC_000008.9:g.19856119C>T NCBI36
NG_008855.1:g.20258C>T
NG_008855.2:g.57612C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.750C>T MANE Select ENSP00000497642.1:p.Arg250=
ENST00000311322.8:c.750C>T ENSP00000309757.6:p.Arg250=
NM_000237.2:c.750C>T NP_000228.1:p.Arg250=
NM_000237.3:c.750C>T MANE Select NP_000228.1:p.Arg250=
Search 100 bp 5'
Search 100 bp 3'