Canonical Allele Identifier: CA370469058
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955903T>G , CM000670.2:g.19955903T>G GRCh38
NC_000008.10:g.19813414T>G , CM000670.1:g.19813414T>G GRCh37
NC_000008.9:g.19857694T>G NCBI36
NG_008855.1:g.21833T>G
NG_008855.2:g.59187T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.838T>G MANE Select ENSP00000497642.1:p.Leu280Val
ENST00000311322.8:c.838T>G ENSP00000309757.6:p.Leu280Val
NM_000237.2:c.838T>G NP_000228.1:p.Leu280Val
NM_000237.3:c.838T>G MANE Select NP_000228.1:p.Leu280Val