Canonical Allele Identifier: CA370469007
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 3119790
ClinVar RCV Id: RCV004410613
MyVariant Identifiers: chr8:g.19813390A>C (hg19) chr8:g.19955879A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955879A>C , CM000670.2:g.19955879A>C GRCh38
NC_000008.10:g.19813390A>C , CM000670.1:g.19813390A>C GRCh37
NC_000008.9:g.19857670A>C NCBI36
NG_008855.1:g.21809A>C
NG_008855.2:g.59163A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.814A>C MANE Select ENSP00000497642.1:p.Ile272Leu
ENST00000311322.8:c.814A>C ENSP00000309757.6:p.Ile272Leu
NM_000237.2:c.814A>C NP_000228.1:p.Ile272Leu
NM_000237.3:c.814A>C MANE Select NP_000228.1:p.Ile272Leu
Search 100 bp 5'
Search 100 bp 3'