Canonical Allele Identifier: CA4655402
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 362407
ClinVar RCV Id: RCV000356200 RCV000590676 RCV001273359 RCV002323563
dbSNP Id: rs1121923
ExAC: 8:19809435 G / A
gnomAD v2: 8-19809435-G-A
gnomAD v3: 8-19951924-G-A
gnomAD v4: 8-19951924-G-A
MyVariant Identifiers: chr8:g.19809435G>A (hg19) chr8:g.19951924G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951924G>A , CM000670.2:g.19951924G>A GRCh38
NC_000008.10:g.19809435G>A , CM000670.1:g.19809435G>A GRCh37
NC_000008.9:g.19853715G>A NCBI36
NG_008855.1:g.17854G>A
NG_008855.2:g.55208G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.405G>A MANE Select ENSP00000497642.1:p.Val135=
ENST00000311322.8:c.405G>A ENSP00000309757.6:p.Val135=
ENST00000520959.5:c.177G>A ENSP00000428496.1:p.Val59=
NM_000237.2:c.405G>A NP_000228.1:p.Val135=
NM_000237.3:c.405G>A MANE Select NP_000228.1:p.Val135=
Search 100 bp 5'
Search 100 bp 3'