Canonical Allele Identifier: CA849561364

Gene: LPL

Linked Data

• dbSNP Id: rs1265241881
• gnomAD v3: 8-19957401-T-G
• gnomAD v4: 8-19957401-T-G
• MyVariant Identifiers: chr8:g.19814912T>G (hg19) ; chr8:g.19957401T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19957401T>G , CM000670.2:g.19957401T>G	GRCh38
NC_000008.10:g.19814912T>G , CM000670.1:g.19814912T>G	GRCh37
NC_000008.9:g.19859192T>G	NCBI36
NG_008855.1:g.23331T>G
NG_008855.2:g.60685T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.1018+1318T>G MANE Select	ENSP00000497642.1:n.1018+1318T>G
ENST00000650478.1:c.79+1318T>G	ENSP00000497560.1:n.79+1318T>G
ENST00000311322.8:c.1018+1318T>G	ENSP00000309757.6:n.1018+1318T>G
NM_000237.2:c.1018+1318T>G	NP_000228.1:n.1018+1318T>G
NM_000237.3:c.1018+1318T>G MANE Select	NP_000228.1:n.1018+1318T>G