Canonical Allele Identifier: CA580502325
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1375323797
gnomAD v2: 8-19811895-G-A
gnomAD v4: 8-19954384-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954384G>A , CM000670.2:g.19954384G>A GRCh38
NC_000008.10:g.19811895G>A , CM000670.1:g.19811895G>A GRCh37
NC_000008.9:g.19856175G>A NCBI36
NG_008855.1:g.20314G>A
NG_008855.2:g.57668G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+31G>A MANE Select ENSP00000497642.1:n.775+31G>A
ENST00000311322.8:c.775+31G>A ENSP00000309757.6:n.775+31G>A
NM_000237.2:c.775+31G>A NP_000228.1:n.775+31G>A
NM_000237.3:c.775+31G>A MANE Select NP_000228.1:n.775+31G>A