Canonical Allele Identifier: CA1111552264
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2069977781
gnomAD v3: 8-19955662-G-A
gnomAD v4: 8-19955662-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955662G>A , CM000670.2:g.19955662G>A GRCh38
NC_000008.10:g.19813173G>A , CM000670.1:g.19813173G>A GRCh37
NC_000008.9:g.19857453G>A NCBI36
NG_008855.1:g.21592G>A
NG_008855.2:g.58946G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.776-179G>A MANE Select ENSP00000497642.1:n.776-179G>A
ENST00000311322.8:c.776-179G>A ENSP00000309757.6:n.776-179G>A
NM_000237.2:c.776-179G>A NP_000228.1:n.776-179G>A
NM_000237.3:c.776-179G>A MANE Select NP_000228.1:n.776-179G>A