Canonical Allele Identifier: CA173618056
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs958804919
gnomAD v3: 8-19961704-A-T
gnomAD v4: 8-19961704-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961704A>T , CM000670.2:g.19961704A>T GRCh38
NC_000008.10:g.19819215A>T , CM000670.1:g.19819215A>T GRCh37
NC_000008.9:g.19863495A>T NCBI36
NG_008855.1:g.27634A>T
NG_008855.2:g.64988A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1323-411A>T MANE Select ENSP00000497642.1:n.1323-411A>T
ENST00000650478.1:c.263-411A>T ENSP00000497560.1:n.263-411A>T
ENST00000311322.8:c.1323-411A>T ENSP00000309757.6:n.1323-411A>T
NM_000237.2:c.1323-411A>T NP_000228.1:n.1323-411A>T
NM_000237.3:c.1323-411A>T MANE Select NP_000228.1:n.1323-411A>T