Canonical Allele Identifier: CA370467630
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951877C>T , CM000670.2:g.19951877C>T GRCh38
NC_000008.10:g.19809388C>T , CM000670.1:g.19809388C>T GRCh37
NC_000008.9:g.19853668C>T NCBI36
NG_008855.1:g.17807C>T
NG_008855.2:g.55161C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.358C>T MANE Select ENSP00000497642.1:p.His120Tyr
ENST00000311322.8:c.358C>T ENSP00000309757.6:p.His120Tyr
ENST00000520959.5:c.130C>T ENSP00000428496.1:p.His44Tyr
ENST00000524029.5:c.358C>T ENSP00000428237.1:p.His120Tyr
NM_000237.2:c.358C>T NP_000228.1:p.His120Tyr
NM_000237.3:c.358C>T MANE Select NP_000228.1:p.His120Tyr