Canonical Allele Identifier: CA370468793
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954347C>G , CM000670.2:g.19954347C>G GRCh38
NC_000008.10:g.19811858C>G , CM000670.1:g.19811858C>G GRCh37
NC_000008.9:g.19856138C>G NCBI36
NG_008855.1:g.20277C>G
NG_008855.2:g.57631C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.769C>G MANE Select ENSP00000497642.1:p.Leu257Val
ENST00000311322.8:c.769C>G ENSP00000309757.6:p.Leu257Val
NM_000237.2:c.769C>G NP_000228.1:p.Leu257Val
NM_000237.3:c.769C>G MANE Select NP_000228.1:p.Leu257Val