Canonical Allele Identifier: CA4655574

Gene: LPL

Linked Data

• ClinVar Variation Id: 495740
• ClinVar RCV Id: RCV000586872
• dbSNP Id: rs59184895
• ExAC: 8:19813610 T / C
• gnomAD v2: 8-19813610-T-C
• gnomAD v3: 8-19956099-T-C
• gnomAD v4: 8-19956099-T-C
• MyVariant Identifiers: chr8:g.19813610T>C (hg19) ; chr8:g.19956099T>C (hg38)
• PubMed: PMID:25626708

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19956099T>C , CM000670.2:g.19956099T>C	GRCh38
NC_000008.10:g.19813610T>C , CM000670.1:g.19813610T>C	GRCh37
NC_000008.9:g.19857890T>C	NCBI36
NG_008855.1:g.22029T>C
NG_008855.2:g.59383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.1018+16T>C MANE Select	ENSP00000497642.1:n.1018+16T>C
ENST00000650478.1:c.79+16T>C	ENSP00000497560.1:n.79+16T>C
ENST00000311322.8:c.1018+16T>C	ENSP00000309757.6:n.1018+16T>C
NM_000237.2:c.1018+16T>C	NP_000228.1:n.1018+16T>C
NM_000237.3:c.1018+16T>C MANE Select	NP_000228.1:n.1018+16T>C