Canonical Allele Identifier: CA4655510
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs777522216
gnomAD v2: 8-19811870-T-C
gnomAD v3: 8-19954359-T-C
gnomAD v4: 8-19954359-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954359T>C , CM000670.2:g.19954359T>C GRCh38
NC_000008.10:g.19811870T>C , CM000670.1:g.19811870T>C GRCh37
NC_000008.9:g.19856150T>C NCBI36
NG_008855.1:g.20289T>C
NG_008855.2:g.57643T>C

Transcript Alleles

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