Canonical Allele Identifier: CA173618743
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs572144530
gnomAD v3: 8-19966851-A-C
gnomAD v4: 8-19966851-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19966851A>C , CM000670.2:g.19966851A>C GRCh38
NC_000008.10:g.19824362A>C , CM000670.1:g.19824362A>C GRCh37
NC_000008.9:g.19868642A>C NCBI36
NG_008855.1:g.32781A>C
NG_008855.2:g.70135A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1541A>C MANE Select ENSP00000497642.1:n.*1541A>C
ENST00000650478.1:c.1909A>C ENSP00000497560.1:n.1909A>C
ENST00000311322.8:c.*1541A>C ENSP00000309757.6:n.*1541A>C
NM_000237.2:c.*1541A>C NP_000228.1:n.*1541A>C
NM_000237.3:c.*1541A>C MANE Select NP_000228.1:n.*1541A>C