Canonical Allele Identifier: CA370467471

Gene: LPL

Linked Data

• MyVariant Identifiers: chr8:g.19809325C>A (hg19) ; chr8:g.19951814C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951814C>A , CM000670.2:g.19951814C>A	GRCh38
NC_000008.10:g.19809325C>A , CM000670.1:g.19809325C>A	GRCh37
NC_000008.9:g.19853605C>A	NCBI36
NG_008855.1:g.17744C>A
NG_008855.2:g.55098C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.295C>A MANE Select	ENSP00000497642.1:p.Leu99Met
ENST00000311322.8:c.295C>A	ENSP00000309757.6:p.Leu99Met
ENST00000520959.5:c.67C>A	ENSP00000428496.1:p.Leu23Met
ENST00000521994.1:n.552C>A
ENST00000522701.5:c.295C>A	ENSP00000428557.1:p.Leu99Met
ENST00000524029.5:c.295C>A	ENSP00000428237.1:p.Leu99Met
NM_000237.2:c.295C>A	NP_000228.1:p.Leu99Met
NM_000237.3:c.295C>A MANE Select	NP_000228.1:p.Leu99Met