Canonical Allele Identifier: CA370466733

Gene: LPL

Linked Data

• ClinVar Variation Id: 1494261
• ClinVar RCV Id: RCV001989223
• dbSNP Id: rs2128836980
• MyVariant Identifiers: chr8:g.19805690G>A (hg19) ; chr8:g.19948179G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19948179G>A , CM000670.2:g.19948179G>A	GRCh38
NC_000008.10:g.19805690G>A , CM000670.1:g.19805690G>A	GRCh37
NC_000008.9:g.19849970G>A	NCBI36
NG_008855.1:g.14109G>A
NG_008855.2:g.51463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.89-1G>A MANE Select	ENSP00000497642.1:n.89-1G>A
ENST00000311322.8:c.89-1G>A	ENSP00000309757.6:n.89-1G>A
ENST00000519773.1:c.*126-1G>A	ENSP00000431028.1:n.*126-1G>A
ENST00000520959.5:c.-140-1G>A	ENSP00000428496.1:n.-140-1G>A
ENST00000521994.1:n.274-1G>A
ENST00000522701.5:c.89-1G>A	ENSP00000428557.1:n.89-1G>A
ENST00000523696.1:n.158-1G>A
ENST00000524029.5:c.89-1G>A	ENSP00000428237.1:n.89-1G>A
NM_000237.2:c.89-1G>A	NP_000228.1:n.89-1G>A
NM_000237.3:c.89-1G>A MANE Select	NP_000228.1:n.89-1G>A