Canonical Allele Identifier: CA580209973

Gene: LPL

Linked Data

• dbSNP Id: rs1206303071
• gnomAD v2: 8-19824509-G-C
• gnomAD v3: 8-19966998-G-C
• gnomAD v4: 8-19966998-G-C
• MyVariant Identifiers: chr8:g.19824509G>C (hg19) ; chr8:g.19966998G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19966998G>C , CM000670.2:g.19966998G>C	GRCh38
NC_000008.10:g.19824509G>C , CM000670.1:g.19824509G>C	GRCh37
NC_000008.9:g.19868789G>C	NCBI36
NG_008855.1:g.32928G>C
NG_008855.2:g.70282G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.*1688G>C MANE Select	ENSP00000497642.1:n.*1688G>C
ENST00000650478.1:c.2056G>C	ENSP00000497560.1:n.2056G>C
ENST00000311322.8:c.*1688G>C	ENSP00000309757.6:n.*1688G>C
NM_000237.2:c.*1688G>C	NP_000228.1:n.*1688G>C
NM_000237.3:c.*1688G>C MANE Select	NP_000228.1:n.*1688G>C