Canonical Allele Identifier: CA4655513
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2739869
ClinVar RCV Id: RCV003555628
dbSNP Id: rs770571397
ExAC: 8:19811878 A / C
gnomAD v2: 8-19811878-A-C
gnomAD v4: 8-19954367-A-C
MyVariant Identifiers: chr8:g.19811878A>C (hg19) chr8:g.19954367A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954367A>C , CM000670.2:g.19954367A>C GRCh38
NC_000008.10:g.19811878A>C , CM000670.1:g.19811878A>C GRCh37
NC_000008.9:g.19856158A>C NCBI36
NG_008855.1:g.20297A>C
NG_008855.2:g.57651A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+14A>C MANE Select ENSP00000497642.1:n.775+14A>C
ENST00000311322.8:c.775+14A>C ENSP00000309757.6:n.775+14A>C
NM_000237.2:c.775+14A>C NP_000228.1:n.775+14A>C
NM_000237.3:c.775+14A>C MANE Select NP_000228.1:n.775+14A>C
Search 100 bp 5'
Search 100 bp 3'