Canonical Allele Identifier: CA2573142629

Gene: LPL

Linked Data

• ClinVar Variation Id: 1455355
• ClinVar RCV Id: RCV001958590
• dbSNP Id: rs2128837699

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951874del , CM000670.2:g.19951874del	GRCh38
NC_000008.10:g.19809385del , CM000670.1:g.19809385del	GRCh37
NC_000008.9:g.19853665del	NCBI36
NG_008855.1:g.17804del
NG_008855.2:g.55158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.355del MANE Select	ENSP00000497642.1:p.Glu119SerfsTer?
ENST00000311322.8:c.355del	ENSP00000309757.6:p.Glu119SerfsTer?
ENST00000520959.5:c.127del	ENSP00000428496.1:p.Glu43SerfsTer?
ENST00000524029.5:c.355del	ENSP00000428237.1:p.Glu119SerfsTer?
NM_000237.2:c.355del	NP_000228.1:p.Glu119SerfsTer?
NM_000237.3:c.355del MANE Select	NP_000228.1:p.Glu119SerfsTer?