Canonical Allele Identifier: CA173617975
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1735989
ClinVar RCV Id: RCV002357450
dbSNP Id: rs1051237995
gnomAD v2: 8-19818430-T-G
gnomAD v3: 8-19960919-T-G
gnomAD v4: 8-19960919-T-G
MyVariant Identifiers: chr8:g.19818430T>G (hg19) chr8:g.19960919T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960919T>G , CM000670.2:g.19960919T>G GRCh38
NC_000008.10:g.19818430T>G , CM000670.1:g.19818430T>G GRCh37
NC_000008.9:g.19862710T>G NCBI36
NG_008855.1:g.26849T>G
NG_008855.2:g.64203T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1158T>G MANE Select ENSP00000497642.1:p.Asn386Lys
ENST00000650478.1:c.98T>G ENSP00000497560.1:p.Ile33Arg
ENST00000311322.8:c.1158T>G ENSP00000309757.6:p.Asn386Lys
NM_000237.2:c.1158T>G NP_000228.1:p.Asn386Lys
NM_000237.3:c.1158T>G MANE Select NP_000228.1:p.Asn386Lys
Search 100 bp 5'
Search 100 bp 3'