Canonical Allele Identifier: CA459678470

Gene: LPL

Linked Data

• ClinVar Variation Id: 1141764
• ClinVar RCV Id: RCV001479322
• dbSNP Id: rs2069936590
• gnomAD v3: 8-19951810-C-T
• gnomAD v4: 8-19951810-C-T
• MyVariant Identifiers: chr8:g.19809321C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951810C>T , CM000670.2:g.19951810C>T	GRCh38
NC_000008.10:g.19809321C>T , CM000670.1:g.19809321C>T	GRCh37
NC_000008.9:g.19853601C>T	NCBI36
NG_008855.1:g.17740C>T
NG_008855.2:g.55094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.291C>T MANE Select	ENSP00000497642.1:p.Ala97=
ENST00000311322.8:c.291C>T	ENSP00000309757.6:p.Ala97=
ENST00000520959.5:c.63C>T	ENSP00000428496.1:p.Ala21=
ENST00000521994.1:n.548C>T
ENST00000522701.5:c.291C>T	ENSP00000428557.1:p.Ala97=
ENST00000524029.5:c.291C>T	ENSP00000428237.1:p.Ala97=
NM_000237.2:c.291C>T	NP_000228.1:p.Ala97=
NM_000237.3:c.291C>T MANE Select	NP_000228.1:p.Ala97=