Canonical Allele Identifier: CA2686360513
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19954486-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954486C>T , CM000670.2:g.19954486C>T GRCh38
NC_000008.10:g.19811997C>T , CM000670.1:g.19811997C>T GRCh37
NC_000008.9:g.19856277C>T NCBI36
NG_008855.1:g.20416C>T
NG_008855.2:g.57770C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+133C>T MANE Select ENSP00000497642.1:n.775+133C>T
ENST00000311322.8:c.775+133C>T ENSP00000309757.6:n.775+133C>T
NM_000237.2:c.775+133C>T NP_000228.1:n.775+133C>T
NM_000237.3:c.775+133C>T MANE Select NP_000228.1:n.775+133C>T