Canonical Allele Identifier: CA849567744
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1197099147
gnomAD v3: 8-19966616-C-G
gnomAD v4: 8-19966616-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19966616C>G , CM000670.2:g.19966616C>G GRCh38
NC_000008.10:g.19824127C>G , CM000670.1:g.19824127C>G GRCh37
NC_000008.9:g.19868407C>G NCBI36
NG_008855.1:g.32546C>G
NG_008855.2:g.69900C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1306C>G MANE Select ENSP00000497642.1:n.*1306C>G
ENST00000650478.1:c.1674C>G ENSP00000497560.1:n.1674C>G
ENST00000311322.8:c.*1306C>G ENSP00000309757.6:n.*1306C>G
NM_000237.2:c.*1306C>G NP_000228.1:n.*1306C>G
NM_000237.3:c.*1306C>G MANE Select NP_000228.1:n.*1306C>G