Canonical Allele Identifier: CA173376205

Gene: LPL

Linked Data

• dbSNP Id: rs954918943
• gnomAD v2: 8-19809061-G-A
• gnomAD v3: 8-19951550-G-A
• gnomAD v4: 8-19951550-G-A
• MyVariant Identifiers: chr8:g.19809061G>A (hg19) ; chr8:g.19951550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951550G>A , CM000670.2:g.19951550G>A	GRCh38
NC_000008.10:g.19809061G>A , CM000670.1:g.19809061G>A	GRCh37
NC_000008.9:g.19853341G>A	NCBI36
NG_008855.1:g.17480G>A
NG_008855.2:g.54834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.250-219G>A MANE Select	ENSP00000497642.1:n.250-219G>A
ENST00000311322.8:c.250-219G>A	ENSP00000309757.6:n.250-219G>A
ENST00000520959.5:c.22-219G>A	ENSP00000428496.1:n.22-219G>A
ENST00000521994.1:n.435-147G>A
ENST00000522701.5:c.250-219G>A	ENSP00000428557.1:n.250-219G>A
ENST00000524029.5:c.250-219G>A	ENSP00000428237.1:n.250-219G>A
NM_000237.2:c.250-219G>A	NP_000228.1:n.250-219G>A
NM_000237.3:c.250-219G>A MANE Select	NP_000228.1:n.250-219G>A