Canonical Allele Identifier: CA849561557
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1235146125
gnomAD v3: 8-19957788-C-A
gnomAD v4: 8-19957788-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957788C>A , CM000670.2:g.19957788C>A GRCh38
NC_000008.10:g.19815299C>A , CM000670.1:g.19815299C>A GRCh37
NC_000008.9:g.19859579C>A NCBI36
NG_008855.1:g.23718C>A
NG_008855.2:g.61072C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1019-1472C>A MANE Select ENSP00000497642.1:n.1019-1472C>A
ENST00000650478.1:c.79+1705C>A ENSP00000497560.1:n.79+1705C>A
ENST00000311322.8:c.1019-1472C>A ENSP00000309757.6:n.1019-1472C>A
NM_000237.2:c.1019-1472C>A NP_000228.1:n.1019-1472C>A
NM_000237.3:c.1019-1472C>A MANE Select NP_000228.1:n.1019-1472C>A