Canonical Allele Identifier: CA459678523
Gene: LPL HGNC NCBI

Linked Data

COSMIC: COSM6013081
MyVariant Identifiers: chr8:g.19809399G>A (hg19)
PubMed: PMID:27479843
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951888G>A , CM000670.2:g.19951888G>A GRCh38
NC_000008.10:g.19809399G>A , CM000670.1:g.19809399G>A GRCh37
NC_000008.9:g.19853679G>A NCBI36
NG_008855.1:g.17818G>A
NG_008855.2:g.55172G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.369G>A MANE Select ENSP00000497642.1:p.Val123=
ENST00000311322.8:c.369G>A ENSP00000309757.6:p.Val123=
ENST00000520959.5:c.141G>A ENSP00000428496.1:p.Val47=
ENST00000524029.5:c.369G>A ENSP00000428237.1:p.Val123=
NM_000237.2:c.369G>A NP_000228.1:p.Val123=
NM_000237.3:c.369G>A MANE Select NP_000228.1:p.Val123=
Search 100 bp 5'
Search 100 bp 3'