Canonical Allele Identifier: CA849563808
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1186783352
gnomAD v3: 8-19960745-C-T
gnomAD v4: 8-19960745-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960745C>T , CM000670.2:g.19960745C>T GRCh38
NC_000008.10:g.19818256C>T , CM000670.1:g.19818256C>T GRCh37
NC_000008.9:g.19862536C>T NCBI36
NG_008855.1:g.26675C>T
NG_008855.2:g.64029C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1140-156C>T MANE Select ENSP00000497642.1:n.1140-156C>T
ENST00000650478.1:c.80-156C>T ENSP00000497560.1:n.80-156C>T
ENST00000311322.8:c.1140-156C>T ENSP00000309757.6:n.1140-156C>T
NM_000237.2:c.1140-156C>T NP_000228.1:n.1140-156C>T
NM_000237.3:c.1140-156C>T MANE Select NP_000228.1:n.1140-156C>T