Canonical Allele Identifier: CA370469054
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955900C>A , CM000670.2:g.19955900C>A GRCh38
NC_000008.10:g.19813411C>A , CM000670.1:g.19813411C>A GRCh37
NC_000008.9:g.19857691C>A NCBI36
NG_008855.1:g.21830C>A
NG_008855.2:g.59184C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.835C>A MANE Select ENSP00000497642.1:p.Leu279Met
ENST00000311322.8:c.835C>A ENSP00000309757.6:p.Leu279Met
NM_000237.2:c.835C>A NP_000228.1:p.Leu279Met
NM_000237.3:c.835C>A MANE Select NP_000228.1:p.Leu279Met