Canonical Allele Identifier: CA1111574493
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1192859974
gnomAD v3: 8-19952134-G-T
gnomAD v4: 8-19952134-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19952134G>T , CM000670.2:g.19952134G>T GRCh38
NC_000008.10:g.19809645G>T , CM000670.1:g.19809645G>T GRCh37
NC_000008.9:g.19853925G>T NCBI36
NG_008855.1:g.18064G>T
NG_008855.2:g.55418G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.429+186G>T MANE Select ENSP00000497642.1:n.429+186G>T
ENST00000311322.8:c.429+186G>T ENSP00000309757.6:n.429+186G>T
ENST00000520959.5:c.201+186G>T ENSP00000428496.1:n.201+186G>T
NM_000237.2:c.429+186G>T NP_000228.1:n.429+186G>T
NM_000237.3:c.429+186G>T MANE Select NP_000228.1:n.429+186G>T