Canonical Allele Identifier: CA173379102
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs748364840
gnomAD v2: 8-19815463-T-G
gnomAD v3: 8-19957952-T-G
gnomAD v4: 8-19957952-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957952T>G , CM000670.2:g.19957952T>G GRCh38
NC_000008.10:g.19815463T>G , CM000670.1:g.19815463T>G GRCh37
NC_000008.9:g.19859743T>G NCBI36
NG_008855.1:g.23882T>G
NG_008855.2:g.61236T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1019-1308T>G MANE Select ENSP00000497642.1:n.1019-1308T>G
ENST00000650478.1:c.79+1869T>G ENSP00000497560.1:n.79+1869T>G
ENST00000311322.8:c.1019-1308T>G ENSP00000309757.6:n.1019-1308T>G
NM_000237.2:c.1019-1308T>G NP_000228.1:n.1019-1308T>G
NM_000237.3:c.1019-1308T>G MANE Select NP_000228.1:n.1019-1308T>G