Canonical Allele Identifier: CA370468946

Gene: LPL

Linked Data

• ClinVar Variation Id: 523886
• ClinVar RCV Id: RCV000627361 ; RCV001250244 ; RCV001248902
• dbSNP Id: rs1297688787
• gnomAD v2: 8-19813360-C-T
• gnomAD v3: 8-19955849-C-T
• gnomAD v4: 8-19955849-C-T
• MyVariant Identifiers: chr8:g.19813360C>T (hg19) ; chr8:g.19955849C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19955849C>T , CM000670.2:g.19955849C>T	GRCh38
NC_000008.10:g.19813360C>T , CM000670.1:g.19813360C>T	GRCh37
NC_000008.9:g.19857640C>T	NCBI36
NG_008855.1:g.21779C>T
NG_008855.2:g.59133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.784C>T MANE Select	ENSP00000497642.1:p.Gln262Ter
ENST00000311322.8:c.784C>T	ENSP00000309757.6:p.Gln262Ter
NM_000237.2:c.784C>T	NP_000228.1:p.Gln262Ter
NM_000237.3:c.784C>T MANE Select	NP_000228.1:p.Gln262Ter