Canonical Allele Identifier: CA370469153
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955943C>T , CM000670.2:g.19955943C>T GRCh38
NC_000008.10:g.19813454C>T , CM000670.1:g.19813454C>T GRCh37
NC_000008.9:g.19857734C>T NCBI36
NG_008855.1:g.21873C>T
NG_008855.2:g.59227C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.878C>T MANE Select ENSP00000497642.1:p.Ser293Phe
ENST00000311322.8:c.878C>T ENSP00000309757.6:p.Ser293Phe
NM_000237.2:c.878C>T NP_000228.1:p.Ser293Phe
NM_000237.3:c.878C>T MANE Select NP_000228.1:p.Ser293Phe