Canonical Allele Identifier: CA370467538
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1252117925
gnomAD v2: 8-19809345-C-A
gnomAD v3: 8-19951834-C-A
gnomAD v4: 8-19951834-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951834C>A , CM000670.2:g.19951834C>A GRCh38
NC_000008.10:g.19809345C>A , CM000670.1:g.19809345C>A GRCh37
NC_000008.9:g.19853625C>A NCBI36
NG_008855.1:g.17764C>A
NG_008855.2:g.55118C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.315C>A MANE Select ENSP00000497642.1:p.Asp105Glu
ENST00000311322.8:c.315C>A ENSP00000309757.6:p.Asp105Glu
ENST00000520959.5:c.87C>A ENSP00000428496.1:p.Asp29Glu
ENST00000522701.5:c.315C>A ENSP00000428557.1:p.Asp105Glu
ENST00000524029.5:c.315C>A ENSP00000428237.1:p.Asp105Glu
NM_000237.2:c.315C>A NP_000228.1:p.Asp105Glu
NM_000237.3:c.315C>A MANE Select NP_000228.1:p.Asp105Glu