Canonical Allele Identifier: CA173378914
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs983386205
gnomAD v3: 8-19957518-A-G
gnomAD v4: 8-19957518-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957518A>G , CM000670.2:g.19957518A>G GRCh38
NC_000008.10:g.19815029A>G , CM000670.1:g.19815029A>G GRCh37
NC_000008.9:g.19859309A>G NCBI36
NG_008855.1:g.23448A>G
NG_008855.2:g.60802A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1018+1435A>G MANE Select ENSP00000497642.1:n.1018+1435A>G
ENST00000650478.1:c.79+1435A>G ENSP00000497560.1:n.79+1435A>G
ENST00000311322.8:c.1018+1435A>G ENSP00000309757.6:n.1018+1435A>G
NM_000237.2:c.1018+1435A>G NP_000228.1:n.1018+1435A>G
NM_000237.3:c.1018+1435A>G MANE Select NP_000228.1:n.1018+1435A>G