Canonical Allele Identifier: CA849561408
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1480728202
gnomAD v3: 8-19957487-G-A
gnomAD v4: 8-19957487-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957487G>A , CM000670.2:g.19957487G>A GRCh38
NC_000008.10:g.19814998G>A , CM000670.1:g.19814998G>A GRCh37
NC_000008.9:g.19859278G>A NCBI36
NG_008855.1:g.23417G>A
NG_008855.2:g.60771G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1018+1404G>A MANE Select ENSP00000497642.1:n.1018+1404G>A
ENST00000650478.1:c.79+1404G>A ENSP00000497560.1:n.79+1404G>A
ENST00000311322.8:c.1018+1404G>A ENSP00000309757.6:n.1018+1404G>A
NM_000237.2:c.1018+1404G>A NP_000228.1:n.1018+1404G>A
NM_000237.3:c.1018+1404G>A MANE Select NP_000228.1:n.1018+1404G>A