Canonical Allele Identifier: CA370467694
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951908T>A , CM000670.2:g.19951908T>A GRCh38
NC_000008.10:g.19809419T>A , CM000670.1:g.19809419T>A GRCh37
NC_000008.9:g.19853699T>A NCBI36
NG_008855.1:g.17838T>A
NG_008855.2:g.55192T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.389T>A MANE Select ENSP00000497642.1:p.Leu130Gln
ENST00000311322.8:c.389T>A ENSP00000309757.6:p.Leu130Gln
ENST00000520959.5:c.161T>A ENSP00000428496.1:p.Leu54Gln
ENST00000524029.5:c.389T>A
NM_000237.2:c.389T>A NP_000228.1:p.Leu130Gln
NM_000237.3:c.389T>A MANE Select NP_000228.1:p.Leu130Gln