Canonical Allele Identifier: CA370469030
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955889T>G , CM000670.2:g.19955889T>G GRCh38
NC_000008.10:g.19813400T>G , CM000670.1:g.19813400T>G GRCh37
NC_000008.9:g.19857680T>G NCBI36
NG_008855.1:g.21819T>G
NG_008855.2:g.59173T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.824T>G MANE Select ENSP00000497642.1:p.Phe275Cys
ENST00000311322.8:c.824T>G ENSP00000309757.6:p.Phe275Cys
NM_000237.2:c.824T>G NP_000228.1:p.Phe275Cys
NM_000237.3:c.824T>G MANE Select NP_000228.1:p.Phe275Cys