Canonical Allele Identifier: CA173376508
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1004963467
gnomAD v3: 8-19952101-A-G
gnomAD v4: 8-19952101-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19952101A>G , CM000670.2:g.19952101A>G GRCh38
NC_000008.10:g.19809612A>G , CM000670.1:g.19809612A>G GRCh37
NC_000008.9:g.19853892A>G NCBI36
NG_008855.1:g.18031A>G
NG_008855.2:g.55385A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.429+153A>G MANE Select ENSP00000497642.1:n.429+153A>G
ENST00000311322.8:c.429+153A>G ENSP00000309757.6:n.429+153A>G
ENST00000520959.5:c.201+153A>G ENSP00000428496.1:n.201+153A>G
NM_000237.2:c.429+153A>G NP_000228.1:n.429+153A>G
NM_000237.3:c.429+153A>G MANE Select NP_000228.1:n.429+153A>G