Canonical Allele Identifier: CA10630656

Gene: LPL

Linked Data

• ClinVar Variation Id: 362451
• ClinVar RCV Id: RCV000274354
• dbSNP Id: rs537986804
• gnomAD v2: 8-19824645-T-C
• gnomAD v3: 8-19967134-T-C
• gnomAD v4: 8-19967134-T-C
• MyVariant Identifiers: chr8:g.19824645T>C (hg19) ; chr8:g.19967134T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19967134T>C , CM000670.2:g.19967134T>C	GRCh38
NC_000008.10:g.19824645T>C , CM000670.1:g.19824645T>C	GRCh37
NC_000008.9:g.19868925T>C	NCBI36
NG_008855.1:g.33064T>C
NG_008855.2:g.70418T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.*1824T>C MANE Select	ENSP00000497642.1:n.*1824T>C
ENST00000650478.1:c.2192T>C	ENSP00000497560.1:n.2192T>C
ENST00000311322.8:c.*1824T>C	ENSP00000309757.6:n.*1824T>C
NM_000237.2:c.*1824T>C	NP_000228.1:n.*1824T>C
NM_000237.3:c.*1824T>C MANE Select	NP_000228.1:n.*1824T>C