Canonical Allele Identifier: CA10625111

Gene: LPL

Linked Data

• ClinVar Variation Id: 362404
• ClinVar RCV Id: RCV000295630
• dbSNP Id: rs886062787
• gnomAD v4: 8-19939403-C-G
• MyVariant Identifiers: chr8:g.19796914C>G (hg19) ; chr8:g.19939403C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939403C>G , CM000670.2:g.19939403C>G	GRCh38
NC_000008.10:g.19796914C>G , CM000670.1:g.19796914C>G	GRCh37
NC_000008.9:g.19841194C>G	NCBI36
NG_008855.1:g.5333C>G
NG_008855.2:g.42687C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.-38C>G MANE Select	ENSP00000497642.1:n.-38C>G
ENST00000311322.8:c.-38C>G	ENSP00000309757.6:n.-38C>G
ENST00000519773.1:c.-38C>G	ENSP00000431028.1:n.-38C>G
ENST00000520959.5:c.-140-8777C>G	ENSP00000428496.1:n.-140-8777C>G
ENST00000521994.1:n.148C>G
ENST00000522701.5:c.-38C>G	ENSP00000428557.1:n.-38C>G
ENST00000523696.1:n.32C>G
ENST00000524029.5:c.-38C>G	ENSP00000428237.1:n.-38C>G
NM_000237.2:c.-38C>G	NP_000228.1:n.-38C>G
NM_000237.3:c.-38C>G MANE Select	NP_000228.1:n.-38C>G