Canonical Allele Identifier: CA10627377

Gene: LPL

Linked Data

• ClinVar Variation Id: 362401
• ClinVar RCV Id: RCV000292071
• dbSNP Id: rs886062785
• gnomAD v4: 8-19939305-T-C
• MyVariant Identifiers: chr8:g.19796816T>C (hg19) ; chr8:g.19939305T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939305T>C , CM000670.2:g.19939305T>C	GRCh38
NC_000008.10:g.19796816T>C , CM000670.1:g.19796816T>C	GRCh37
NC_000008.9:g.19841096T>C	NCBI36
NG_008855.1:g.5235T>C
NG_008855.2:g.42589T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.-136T>C MANE Select	ENSP00000497642.1:n.-136T>C
ENST00000311322.8:c.-136T>C	ENSP00000309757.6:n.-136T>C
ENST00000519773.1:c.-136T>C	ENSP00000431028.1:n.-136T>C
ENST00000520959.5:c.-140-8875T>C	ENSP00000428496.1:n.-140-8875T>C
ENST00000521994.1:n.50T>C
ENST00000522701.5:c.-136T>C	ENSP00000428557.1:n.-136T>C
ENST00000524029.5:c.-136T>C	ENSP00000428237.1:n.-136T>C
NM_000237.2:c.-136T>C	NP_000228.1:n.-136T>C
NM_000237.3:c.-136T>C MANE Select	NP_000228.1:n.-136T>C