Canonical Allele Identifier: CA580157606
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1270199779
gnomAD v2: 8-19813100-T-C
gnomAD v3: 8-19955589-T-C
gnomAD v4: 8-19955589-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955589T>C , CM000670.2:g.19955589T>C GRCh38
NC_000008.10:g.19813100T>C , CM000670.1:g.19813100T>C GRCh37
NC_000008.9:g.19857380T>C NCBI36
NG_008855.1:g.21519T>C
NG_008855.2:g.58873T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.776-252T>C MANE Select ENSP00000497642.1:n.776-252T>C
ENST00000311322.8:c.776-252T>C ENSP00000309757.6:n.776-252T>C
NM_000237.2:c.776-252T>C NP_000228.1:n.776-252T>C
NM_000237.3:c.776-252T>C MANE Select NP_000228.1:n.776-252T>C