Canonical Allele Identifier: CA4655477
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1452072
ClinVar RCV Id: RCV002007537
dbSNP Id: rs372668179
ExAC: 8:19811679 G / T
gnomAD v2: 8-19811679-G-T
gnomAD v4: 8-19954168-G-T
MyVariant Identifiers: chr8:g.19811679G>T (hg19) chr8:g.19954168G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954168G>T , CM000670.2:g.19954168G>T GRCh38
NC_000008.10:g.19811679G>T , CM000670.1:g.19811679G>T GRCh37
NC_000008.9:g.19855959G>T NCBI36
NG_008855.1:g.20098G>T
NG_008855.2:g.57452G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.590G>T MANE Select ENSP00000497642.1:p.Arg197Leu
ENST00000311322.8:c.590G>T ENSP00000309757.6:p.Arg197Leu
NM_000237.2:c.590G>T NP_000228.1:p.Arg197Leu
NM_000237.3:c.590G>T MANE Select NP_000228.1:p.Arg197Leu
Search 100 bp 5'
Search 100 bp 3'