Canonical Allele Identifier: CA173618163
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs944682921
gnomAD v2: 8-19820281-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962770A>G , CM000670.2:g.19962770A>G GRCh38
NC_000008.10:g.19820281A>G , CM000670.1:g.19820281A>G GRCh37
NC_000008.9:g.19864561A>G NCBI36
NG_008855.1:g.28700A>G
NG_008855.2:g.66054A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1427+551A>G MANE Select ENSP00000497642.1:n.1427+551A>G
ENST00000650478.1:c.367+551A>G ENSP00000497560.1:n.367+551A>G
ENST00000311322.8:c.1427+551A>G ENSP00000309757.6:n.1427+551A>G
NM_000237.2:c.1427+551A>G NP_000228.1:n.1427+551A>G
NM_000237.3:c.1427+551A>G MANE Select NP_000228.1:n.1427+551A>G