Canonical Allele Identifier: CA459678488
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1537949
ClinVar RCV Id: RCV002092807 RCV002324521
dbSNP Id: rs1230163149
gnomAD v2: 8-19809348-C-T
gnomAD v4: 8-19951837-C-T
MyVariant Identifiers: chr8:g.19809348C>T (hg19) chr8:g.19951837C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951837C>T , CM000670.2:g.19951837C>T GRCh38
NC_000008.10:g.19809348C>T , CM000670.1:g.19809348C>T GRCh37
NC_000008.9:g.19853628C>T NCBI36
NG_008855.1:g.17767C>T
NG_008855.2:g.55121C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.318C>T MANE Select ENSP00000497642.1:p.Ser106=
ENST00000311322.8:c.318C>T ENSP00000309757.6:p.Ser106=
ENST00000520959.5:c.90C>T ENSP00000428496.1:p.Ser30=
ENST00000524029.5:c.318C>T ENSP00000428237.1:p.Ser106=
NM_000237.2:c.318C>T NP_000228.1:p.Ser106=
NM_000237.3:c.318C>T MANE Select NP_000228.1:p.Ser106=
Search 100 bp 5'
Search 100 bp 3'