Canonical Allele Identifier: CA370468308
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2992928
ClinVar RCV Id: RCV003858039
dbSNP Id: rs1414157603
MyVariant Identifiers: chr8:g.19811657G>A (hg19) chr8:g.19954146G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954146G>A , CM000670.2:g.19954146G>A GRCh38
NC_000008.10:g.19811657G>A , CM000670.1:g.19811657G>A GRCh37
NC_000008.9:g.19855937G>A NCBI36
NG_008855.1:g.20076G>A
NG_008855.2:g.57430G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.568G>A MANE Select ENSP00000497642.1:p.Glu190Lys
ENST00000311322.8:c.568G>A ENSP00000309757.6:p.Glu190Lys
ENST00000520959.5:c.340G>A ENSP00000428496.1:p.Glu114Lys
NM_000237.2:c.568G>A NP_000228.1:p.Glu190Lys
NM_000237.3:c.568G>A MANE Select NP_000228.1:p.Glu190Lys
Search 100 bp 5'
Search 100 bp 3'