Canonical Allele Identifier: CA370469053
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955898C>T , CM000670.2:g.19955898C>T GRCh38
NC_000008.10:g.19813409C>T , CM000670.1:g.19813409C>T GRCh37
NC_000008.9:g.19857689C>T NCBI36
NG_008855.1:g.21828C>T
NG_008855.2:g.59182C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.833C>T MANE Select ENSP00000497642.1:p.Ser278Phe
ENST00000311322.8:c.833C>T ENSP00000309757.6:p.Ser278Phe
NM_000237.2:c.833C>T NP_000228.1:p.Ser278Phe
NM_000237.3:c.833C>T MANE Select NP_000228.1:p.Ser278Phe