Canonical Allele Identifier: CA173618070
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs924481944
gnomAD v3: 8-19961803-C-T
gnomAD v4: 8-19961803-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961803C>T , CM000670.2:g.19961803C>T GRCh38
NC_000008.10:g.19819314C>T , CM000670.1:g.19819314C>T GRCh37
NC_000008.9:g.19863594C>T NCBI36
NG_008855.1:g.27733C>T
NG_008855.2:g.65087C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1323-312C>T MANE Select ENSP00000497642.1:n.1323-312C>T
ENST00000650478.1:c.263-312C>T ENSP00000497560.1:n.263-312C>T
ENST00000311322.8:c.1323-312C>T ENSP00000309757.6:n.1323-312C>T
NM_000237.2:c.1323-312C>T NP_000228.1:n.1323-312C>T
NM_000237.3:c.1323-312C>T MANE Select NP_000228.1:n.1323-312C>T