Canonical Allele Identifier: CA370467587
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19951856T>A
GRCh37 chr8:g.19809367T>A
Revel Score:
ENST00000520959 0.871
ENST00000524029 0.871
ENST00000311322 0.871
ENST00000538071 0.871
ENST00000535763 0.871
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951856T>A , CM000670.2:g.19951856T>A GRCh38
NC_000008.10:g.19809367T>A , CM000670.1:g.19809367T>A GRCh37
NC_000008.9:g.19853647T>A NCBI36
NG_008855.1:g.17786T>A
NG_008855.2:g.55140T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.337T>A MANE Select ENSP00000497642.1:p.Trp113Arg
ENST00000311322.8:c.337T>A ENSP00000309757.6:p.Trp113Arg
ENST00000520959.5:c.109T>A ENSP00000428496.1:p.Trp37Arg
ENST00000524029.5:c.337T>A ENSP00000428237.1:p.Trp113Arg
NM_000237.2:c.337T>A NP_000228.1:p.Trp113Arg
NM_000237.3:c.337T>A MANE Select NP_000228.1:p.Trp113Arg
Search 100 bp 5'
Search 100 bp 3'