Canonical Allele Identifier: CA173376374

Gene: LPL

Linked Data

• dbSNP Id: rs962468270
• gnomAD v2: 8-19809344-A-C
• gnomAD v3: 8-19951833-A-C
• gnomAD v4: 8-19951833-A-C
• MyVariant Identifiers: chr8:g.19809344A>C (hg19) ; chr8:g.19951833A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951833A>C , CM000670.2:g.19951833A>C	GRCh38
NC_000008.10:g.19809344A>C , CM000670.1:g.19809344A>C	GRCh37
NC_000008.9:g.19853624A>C	NCBI36
NG_008855.1:g.17763A>C
NG_008855.2:g.55117A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.314A>C MANE Select	ENSP00000497642.1:p.Asp105Ala
ENST00000311322.8:c.314A>C	ENSP00000309757.6:p.Asp105Ala
ENST00000520959.5:c.86A>C	ENSP00000428496.1:p.Asp29Ala
ENST00000522701.5:c.314A>C	ENSP00000428557.1:p.Asp105Ala
ENST00000524029.5:c.314A>C	ENSP00000428237.1:p.Asp105Ala
NM_000237.2:c.314A>C	NP_000228.1:p.Asp105Ala
NM_000237.3:c.314A>C MANE Select	NP_000228.1:p.Asp105Ala