Canonical Allele Identifier: CA370467538

Gene: LPL

Linked Data

• dbSNP Id: rs1252117925
• gnomAD v2: 8-19809345-C-A
• gnomAD v3: 8-19951834-C-A
• gnomAD v4: 8-19951834-C-A
• MyVariant Identifiers: chr8:g.19809345C>A (hg19) ; chr8:g.19951834C>A (hg38)

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