Canonical Allele Identifier: CA849557649
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1413675231
gnomAD v3: 8-19952117-T-A
gnomAD v4: 8-19952117-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19952117T>A , CM000670.2:g.19952117T>A GRCh38
NC_000008.10:g.19809628T>A , CM000670.1:g.19809628T>A GRCh37
NC_000008.9:g.19853908T>A NCBI36
NG_008855.1:g.18047T>A
NG_008855.2:g.55401T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.429+169T>A MANE Select ENSP00000497642.1:n.429+169T>A
ENST00000311322.8:c.429+169T>A ENSP00000309757.6:n.429+169T>A
ENST00000520959.5:c.201+169T>A ENSP00000428496.1:n.201+169T>A
NM_000237.2:c.429+169T>A NP_000228.1:n.429+169T>A
NM_000237.3:c.429+169T>A MANE Select NP_000228.1:n.429+169T>A