Canonical Allele Identifier: CA251886
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1548
ClinVar RCV Id: RCV000001613 RCV001055155 RCV002415386 RCV003894783
dbSNP Id: rs118204077
ExAC: 8:19813384 C / T
gnomAD v2: 8-19813384-C-T
gnomAD v3: 8-19955873-C-T
gnomAD v4: 8-19955873-C-T
COSMIC: COSM6306010
MyVariant Identifiers: chr8:g.19813384C>T (hg19) chr8:g.19955873C>T (hg38)
PubMed: PMID:7906986
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955873C>T , CM000670.2:g.19955873C>T GRCh38
NC_000008.10:g.19813384C>T , CM000670.1:g.19813384C>T GRCh37
NC_000008.9:g.19857664C>T NCBI36
NG_008855.1:g.21803C>T
NG_008855.2:g.59157C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.808C>T MANE Select ENSP00000497642.1:p.Arg270Cys
ENST00000311322.8:c.808C>T ENSP00000309757.6:p.Arg270Cys
NM_000237.2:c.808C>T NP_000228.1:p.Arg270Cys
NM_000237.3:c.808C>T MANE Select NP_000228.1:p.Arg270Cys
Search 100 bp 5'
Search 100 bp 3'