Canonical Allele Identifier: CA4655394
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2280936
ClinVar RCV Id: RCV004131812
dbSNP Id: rs754692513
ExAC: 8:19809404 C / T
gnomAD v2: 8-19809404-C-T
gnomAD v3: 8-19951893-C-T
gnomAD v4: 8-19951893-C-T
MyVariant Identifiers: chr8:g.19809404C>T (hg19) chr8:g.19951893C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951893C>T , CM000670.2:g.19951893C>T GRCh38
NC_000008.10:g.19809404C>T , CM000670.1:g.19809404C>T GRCh37
NC_000008.9:g.19853684C>T NCBI36
NG_008855.1:g.17823C>T
NG_008855.2:g.55177C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.374C>T MANE Select ENSP00000497642.1:p.Ala125Val
ENST00000311322.8:c.374C>T ENSP00000309757.6:p.Ala125Val
ENST00000520959.5:c.146C>T ENSP00000428496.1:p.Ala49Val
ENST00000524029.5:c.374C>T ENSP00000428237.1:p.Ala125Val
NM_000237.2:c.374C>T NP_000228.1:p.Ala125Val
NM_000237.3:c.374C>T MANE Select NP_000228.1:p.Ala125Val
Search 100 bp 5'
Search 100 bp 3'