Canonical Allele Identifier: CA849567924
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1475578846
gnomAD v3: 8-19966839-A-C
gnomAD v4: 8-19966839-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19966839A>C , CM000670.2:g.19966839A>C GRCh38
NC_000008.10:g.19824350A>C , CM000670.1:g.19824350A>C GRCh37
NC_000008.9:g.19868630A>C NCBI36
NG_008855.1:g.32769A>C
NG_008855.2:g.70123A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1529A>C MANE Select ENSP00000497642.1:n.*1529A>C
ENST00000650478.1:c.1897A>C ENSP00000497560.1:n.1897A>C
ENST00000311322.8:c.*1529A>C ENSP00000309757.6:n.*1529A>C
NM_000237.2:c.*1529A>C NP_000228.1:n.*1529A>C
NM_000237.3:c.*1529A>C MANE Select NP_000228.1:n.*1529A>C