Canonical Allele Identifier: CA1111556872
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2070051020
gnomAD v3: 8-19962730-G-C
gnomAD v4: 8-19962730-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962730G>C , CM000670.2:g.19962730G>C GRCh38
NC_000008.10:g.19820241G>C , CM000670.1:g.19820241G>C GRCh37
NC_000008.9:g.19864521G>C NCBI36
NG_008855.1:g.28660G>C
NG_008855.2:g.66014G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1427+511G>C MANE Select ENSP00000497642.1:n.1427+511G>C
ENST00000650478.1:c.367+511G>C ENSP00000497560.1:n.367+511G>C
ENST00000311322.8:c.1427+511G>C ENSP00000309757.6:n.1427+511G>C
NM_000237.2:c.1427+511G>C NP_000228.1:n.1427+511G>C
NM_000237.3:c.1427+511G>C MANE Select NP_000228.1:n.1427+511G>C