Canonical Allele Identifier: CA370468753
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1563575286
gnomAD v2: 8-19811847-C-T
gnomAD v4: 8-19954336-C-T
MyVariant Identifiers: chr8:g.19811847C>T (hg19) chr8:g.19811847_19811851delinsTAGAG (hg19) chr8:g.19954336C>T (hg38) chr8:g.19954336_19954340delinsTAGAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954336C>T , CM000670.2:g.19954336C>T GRCh38
NC_000008.10:g.19811847C>T , CM000670.1:g.19811847C>T GRCh37
NC_000008.9:g.19856127C>T NCBI36
NG_008855.1:g.20266C>T
NG_008855.2:g.57620C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.758C>T MANE Select ENSP00000497642.1:p.Ala253Val
ENST00000311322.8:c.758C>T ENSP00000309757.6:p.Ala253Val
NM_000237.2:c.758C>T NP_000228.1:p.Ala253Val
NM_000237.3:c.758C>T MANE Select NP_000228.1:p.Ala253Val
Search 100 bp 5'
Search 100 bp 3'