Canonical Allele Identifier: CA370468555
Gene: LPL HGNC NCBI

Linked Data

COSMIC: COSM750139

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954266G>T , CM000670.2:g.19954266G>T GRCh38
NC_000008.10:g.19811777G>T , CM000670.1:g.19811777G>T GRCh37
NC_000008.9:g.19856057G>T NCBI36
NG_008855.1:g.20196G>T
NG_008855.2:g.57550G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.688G>T MANE Select ENSP00000497642.1:p.Val230Phe
ENST00000311322.8:c.688G>T ENSP00000309757.6:p.Val230Phe
NM_000237.2:c.688G>T NP_000228.1:p.Val230Phe
NM_000237.3:c.688G>T MANE Select NP_000228.1:p.Val230Phe