Canonical Allele Identifier: CA4655375

Gene: LPL

Linked Data

• ClinVar Variation Id: 723310
• ClinVar RCV Id: RCV000897052 ; RCV001160569 ; RCV002434191
• dbSNP Id: rs201946950
• ExAC: 8:19809320 C / T
• gnomAD v2: 8-19809320-C-T
• gnomAD v3: 8-19951809-C-T
• gnomAD v4: 8-19951809-C-T
• COSMIC: COSM1496853
• MyVariant Identifiers: chr8:g.19809320C>T (hg19) ; chr8:g.19951809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951809C>T , CM000670.2:g.19951809C>T	GRCh38
NC_000008.10:g.19809320C>T , CM000670.1:g.19809320C>T	GRCh37
NC_000008.9:g.19853600C>T	NCBI36
NG_008855.1:g.17739C>T
NG_008855.2:g.55093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.290C>T MANE Select	ENSP00000497642.1:p.Ala97Val
ENST00000311322.8:c.290C>T	ENSP00000309757.6:p.Ala97Val
ENST00000520959.5:c.62C>T	ENSP00000428496.1:p.Ala21Val
ENST00000521994.1:n.547C>T
ENST00000522701.5:c.290C>T	ENSP00000428557.1:p.Ala97Val
ENST00000524029.5:c.290C>T	ENSP00000428237.1:p.Ala97Val
NM_000237.2:c.290C>T	NP_000228.1:p.Ala97Val
NM_000237.3:c.290C>T MANE Select	NP_000228.1:p.Ala97Val