Canonical Allele Identifier: CA849561359
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1420300786
gnomAD v3: 8-19957387-A-T
gnomAD v4: 8-19957387-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957387A>T , CM000670.2:g.19957387A>T GRCh38
NC_000008.10:g.19814898A>T , CM000670.1:g.19814898A>T GRCh37
NC_000008.9:g.19859178A>T NCBI36
NG_008855.1:g.23317A>T
NG_008855.2:g.60671A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1018+1304A>T MANE Select ENSP00000497642.1:n.1018+1304A>T
ENST00000650478.1:c.79+1304A>T ENSP00000497560.1:n.79+1304A>T
ENST00000311322.8:c.1018+1304A>T ENSP00000309757.6:n.1018+1304A>T
NM_000237.2:c.1018+1304A>T NP_000228.1:n.1018+1304A>T
NM_000237.3:c.1018+1304A>T MANE Select NP_000228.1:n.1018+1304A>T