Canonical Allele Identifier: CA370464593

Gene: LPL

Linked Data

• dbSNP Id: rs1197167392
• gnomAD v2: 8-19796956-A-T
• gnomAD v3: 8-19939445-A-T
• gnomAD v4: 8-19939445-A-T
• MyVariant Identifiers: chr8:g.19796956A>T (hg19) ; chr8:g.19939445A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939445A>T , CM000670.2:g.19939445A>T	GRCh38
NC_000008.10:g.19796956A>T , CM000670.1:g.19796956A>T	GRCh37
NC_000008.9:g.19841236A>T	NCBI36
NG_008855.1:g.5375A>T
NG_008855.2:g.42729A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.5A>T MANE Select	ENSP00000497642.1:p.Glu2Val
ENST00000311322.8:c.5A>T	ENSP00000309757.6:p.Glu2Val
ENST00000519773.1:c.5A>T	ENSP00000431028.1:p.Glu2Val
ENST00000520959.5:c.-140-8735A>T	ENSP00000428496.1:n.-140-8735A>T
ENST00000521994.1:n.190A>T
ENST00000522701.5:c.5A>T	ENSP00000428557.1:p.Glu2Val
ENST00000523696.1:n.74A>T
ENST00000524029.5:c.5A>T	ENSP00000428237.1:p.Glu2Val
NM_000237.2:c.5A>T	NP_000228.1:p.Glu2Val
NM_000237.3:c.5A>T MANE Select	NP_000228.1:p.Glu2Val