Canonical Allele Identifier: CA2739279729

Gene: LPL

Linked Data

• ClinVar Variation Id: 2793081
• ClinVar RCV Id: RCV003667633

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19948218dup , CM000670.2:g.19948218dup	GRCh38
NC_000008.10:g.19805729dup , CM000670.1:g.19805729dup	GRCh37
NC_000008.9:g.19850009dup	NCBI36
NG_008855.1:g.14148dup
NG_008855.2:g.51502dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.127dup MANE Select	ENSP00000497642.1:p.Leu43ProfsTer5
ENST00000311322.8:c.127dup	ENSP00000309757.6:p.Leu43ProfsTer5
ENST00000519773.1:c.*164dup	ENSP00000431028.1:n.*164dup
ENST00000520959.5:c.-102dup	ENSP00000428496.1:n.-102dup
ENST00000521994.1:n.312dup
ENST00000522701.5:c.127dup	ENSP00000428557.1:p.Leu43ProfsTer5
ENST00000523696.1:n.196dup
ENST00000524029.5:c.127dup	ENSP00000428237.1:p.Leu43ProfsTer5
NM_000237.2:c.127dup	NP_000228.1:p.Leu43ProfsTer5
NM_000237.3:c.127dup MANE Select	NP_000228.1:p.Leu43ProfsTer5