Canonical Allele Identifier: CA230617
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 120089
ClinVar RCV Id: RCV000106287
dbSNP Id: rs137854428
MyVariant Identifiers: chr8:g.19823185A>C (hg19) chr8:g.19965674A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19965674A>C , CM000670.2:g.19965674A>C GRCh38
NC_000008.10:g.19823185A>C , CM000670.1:g.19823185A>C GRCh37
NC_000008.9:g.19867465A>C NCBI36
NG_008855.1:g.31604A>C
NG_008855.2:g.68958A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*364A>C MANE Select ENSP00000497642.1:n.*364A>C
ENST00000650478.1:c.732A>C ENSP00000497560.1:n.732A>C
ENST00000311322.8:c.*364A>C ENSP00000309757.6:n.*364A>C
NM_000237.2:c.*364A>C NP_000228.1:n.*364A>C
NM_000237.3:c.*364A>C MANE Select NP_000228.1:n.*364A>C
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