Canonical Allele Identifier: CA370464615
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19939454-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939454C>A , CM000670.2:g.19939454C>A GRCh38
NC_000008.10:g.19796965C>A , CM000670.1:g.19796965C>A GRCh37
NC_000008.9:g.19841245C>A NCBI36
NG_008855.1:g.5384C>A
NG_008855.2:g.42738C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.14C>A MANE Select ENSP00000497642.1:p.Ala5Asp
ENST00000311322.8:c.14C>A ENSP00000309757.6:p.Ala5Asp
ENST00000519773.1:c.14C>A ENSP00000431028.1:p.Ala5Asp
ENST00000520959.5:c.-140-8726C>A ENSP00000428496.1:n.-140-8726C>A
ENST00000521994.1:n.199C>A
ENST00000522701.5:c.14C>A ENSP00000428557.1:p.Ala5Asp
ENST00000523696.1:n.83C>A
ENST00000524029.5:c.14C>A ENSP00000428237.1:p.Ala5Asp
NM_000237.2:c.14C>A NP_000228.1:p.Ala5Asp
NM_000237.3:c.14C>A MANE Select NP_000228.1:p.Ala5Asp