Canonical Allele Identifier: CA4655497

Gene: LPL

Linked Data

• ClinVar Variation Id: 793389
• ClinVar RCV Id: RCV000976571 ; RCV002363491
• dbSNP Id: rs370261979
• ExAC: 8:19811788 C / T
• gnomAD v2: 8-19811788-C-T
• gnomAD v3: 8-19954277-C-T
• gnomAD v4: 8-19954277-C-T
• MyVariant Identifiers: chr8:g.19811788C>T (hg19) ; chr8:g.19954277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954277C>T , CM000670.2:g.19954277C>T	GRCh38
NC_000008.10:g.19811788C>T , CM000670.1:g.19811788C>T	GRCh37
NC_000008.9:g.19856068C>T	NCBI36
NG_008855.1:g.20207C>T
NG_008855.2:g.57561C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.699C>T MANE Select	ENSP00000497642.1:p.Tyr233=
ENST00000311322.8:c.699C>T	ENSP00000309757.6:p.Tyr233=
NM_000237.2:c.699C>T	NP_000228.1:p.Tyr233=
NM_000237.3:c.699C>T MANE Select	NP_000228.1:p.Tyr233=