Canonical Allele Identifier: CA370468364
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954173T>G , CM000670.2:g.19954173T>G GRCh38
NC_000008.10:g.19811684T>G , CM000670.1:g.19811684T>G GRCh37
NC_000008.9:g.19855964T>G NCBI36
NG_008855.1:g.20103T>G
NG_008855.2:g.57457T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.595T>G MANE Select ENSP00000497642.1:p.Ser199Ala
ENST00000311322.8:c.595T>G ENSP00000309757.6:p.Ser199Ala
NM_000237.2:c.595T>G NP_000228.1:p.Ser199Ala
NM_000237.3:c.595T>G MANE Select NP_000228.1:p.Ser199Ala