Canonical Allele Identifier: CA1769103161
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs542238264
gnomAD v3: 8-19954535-T-C
gnomAD v4: 8-19954535-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954535T>C , CM000670.2:g.19954535T>C GRCh38
NC_000008.10:g.19812046T>C , CM000670.1:g.19812046T>C GRCh37
NC_000008.9:g.19856326T>C NCBI36
NG_008855.1:g.20465T>C
NG_008855.2:g.57819T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+182T>C MANE Select ENSP00000497642.1:n.775+182T>C
ENST00000311322.8:c.775+182T>C ENSP00000309757.6:n.775+182T>C
NM_000237.2:c.775+182T>C NP_000228.1:n.775+182T>C
NM_000237.3:c.775+182T>C MANE Select NP_000228.1:n.775+182T>C