Canonical Allele Identifier: CA1111556603
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2070042464
gnomAD v3: 8-19961921-G-A
gnomAD v4: 8-19961921-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961921G>A , CM000670.2:g.19961921G>A GRCh38
NC_000008.10:g.19819432G>A , CM000670.1:g.19819432G>A GRCh37
NC_000008.9:g.19863712G>A NCBI36
NG_008855.1:g.27851G>A
NG_008855.2:g.65205G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1323-194G>A MANE Select ENSP00000497642.1:n.1323-194G>A
ENST00000650478.1:c.263-194G>A ENSP00000497560.1:n.263-194G>A
ENST00000311322.8:c.1323-194G>A ENSP00000309757.6:n.1323-194G>A
NM_000237.2:c.1323-194G>A NP_000228.1:n.1323-194G>A
NM_000237.3:c.1323-194G>A MANE Select NP_000228.1:n.1323-194G>A