Canonical Allele Identifier: CA173618166
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs548773912
gnomAD v3: 8-19962784-A-C
gnomAD v4: 8-19962784-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962784A>C , CM000670.2:g.19962784A>C GRCh38
NC_000008.10:g.19820295A>C , CM000670.1:g.19820295A>C GRCh37
NC_000008.9:g.19864575A>C NCBI36
NG_008855.1:g.28714A>C
NG_008855.2:g.66068A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1427+565A>C MANE Select ENSP00000497642.1:n.1427+565A>C
ENST00000650478.1:c.367+565A>C ENSP00000497560.1:n.367+565A>C
ENST00000311322.8:c.1427+565A>C ENSP00000309757.6:n.1427+565A>C
NM_000237.2:c.1427+565A>C NP_000228.1:n.1427+565A>C
NM_000237.3:c.1427+565A>C MANE Select NP_000228.1:n.1427+565A>C