Canonical Allele Identifier: CA370467595
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951859C>G , CM000670.2:g.19951859C>G GRCh38
NC_000008.10:g.19809370C>G , CM000670.1:g.19809370C>G GRCh37
NC_000008.9:g.19853650C>G NCBI36
NG_008855.1:g.17789C>G
NG_008855.2:g.55143C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.340C>G MANE Select ENSP00000497642.1:p.Leu114Val
ENST00000311322.8:c.340C>G ENSP00000309757.6:p.Leu114Val
ENST00000520959.5:c.112C>G ENSP00000428496.1:p.Leu38Val
ENST00000524029.5:c.340C>G ENSP00000428237.1:p.Leu114Val
NM_000237.2:c.340C>G NP_000228.1:p.Leu114Val
NM_000237.3:c.340C>G MANE Select NP_000228.1:p.Leu114Val