Canonical Allele Identifier: CA459879365
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1127341
ClinVar RCV Id: RCV001459727
dbSNP Id: rs2128838475
MyVariant Identifiers: chr8:g.19813353T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955842T>C , CM000670.2:g.19955842T>C GRCh38
NC_000008.10:g.19813353T>C , CM000670.1:g.19813353T>C GRCh37
NC_000008.9:g.19857633T>C NCBI36
NG_008855.1:g.21772T>C
NG_008855.2:g.59126T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.777T>C MANE Select ENSP00000497642.1:p.Asp259=
ENST00000311322.8:c.777T>C ENSP00000309757.6:p.Asp259=
NM_000237.2:c.777T>C NP_000228.1:p.Asp259=
NM_000237.3:c.777T>C MANE Select NP_000228.1:p.Asp259=
Search 100 bp 5'
Search 100 bp 3'