Canonical Allele Identifier: CA849556933
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1260233282
gnomAD v3: 8-19951607-A-G
gnomAD v4: 8-19951607-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951607A>G , CM000670.2:g.19951607A>G GRCh38
NC_000008.10:g.19809118A>G , CM000670.1:g.19809118A>G GRCh37
NC_000008.9:g.19853398A>G NCBI36
NG_008855.1:g.17537A>G
NG_008855.2:g.54891A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.250-162A>G MANE Select ENSP00000497642.1:n.250-162A>G
ENST00000311322.8:c.250-162A>G ENSP00000309757.6:n.250-162A>G
ENST00000520959.5:c.22-162A>G ENSP00000428496.1:n.22-162A>G
ENST00000521994.1:n.435-90A>G
ENST00000522701.5:c.250-162A>G ENSP00000428557.1:n.250-162A>G
ENST00000524029.5:c.250-162A>G ENSP00000428237.1:n.250-162A>G
NM_000237.2:c.250-162A>G NP_000228.1:n.250-162A>G
NM_000237.3:c.250-162A>G MANE Select NP_000228.1:n.250-162A>G