Canonical Allele Identifier: CA459719147
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2867283
ClinVar RCV Id: RCV003700647
gnomAD v4: 8-19960922-G-A
MyVariant Identifiers: chr8:g.19818433G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960922G>A , CM000670.2:g.19960922G>A GRCh38
NC_000008.10:g.19818433G>A , CM000670.1:g.19818433G>A GRCh37
NC_000008.9:g.19862713G>A NCBI36
NG_008855.1:g.26852G>A
NG_008855.2:g.64206G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1161G>A MANE Select ENSP00000497642.1:p.Lys387=
ENST00000650478.1:c.101G>A ENSP00000497560.1:p.Arg34Lys
ENST00000311322.8:c.1161G>A ENSP00000309757.6:p.Lys387=
NM_000237.2:c.1161G>A NP_000228.1:p.Lys387=
NM_000237.3:c.1161G>A MANE Select NP_000228.1:p.Lys387=
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