Canonical Allele Identifier: CA4655423

Gene: LPL

Linked Data

• ClinVar Variation Id: 362408
• ClinVar RCV Id: RCV000404936 ; RCV000590669
• dbSNP Id: rs11570897
• ExAC: 8:19810815 C / T
• gnomAD v2: 8-19810815-C-T
• gnomAD v3: 8-19953304-C-T
• gnomAD v4: 8-19953304-C-T
• MyVariant Identifiers: chr8:g.19810815C>T (hg19) ; chr8:g.19953304C>T (hg38)
• PubMed: PMID:9225235

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19953304C>T , CM000670.2:g.19953304C>T	GRCh38
NC_000008.10:g.19810815C>T , CM000670.1:g.19810815C>T	GRCh37
NC_000008.9:g.19855095C>T	NCBI36
NG_008855.1:g.19234C>T
NG_008855.2:g.56588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.430-6C>T MANE Select	ENSP00000497642.1:n.430-6C>T
ENST00000311322.8:c.430-6C>T	ENSP00000309757.6:n.430-6C>T
ENST00000520959.5:c.202-6C>T	ENSP00000428496.1:n.202-6C>T
NM_000237.2:c.430-6C>T	NP_000228.1:n.430-6C>T
NM_000237.3:c.430-6C>T MANE Select	NP_000228.1:n.430-6C>T