Canonical Allele Identifier: CA4655362

Gene: LPL

Linked Data

• ClinVar Variation Id: 2738496
• ClinVar RCV Id: RCV003562645
• dbSNP Id: rs776755748
• ExAC: 8:19809261 C / T
• gnomAD v2: 8-19809261-C-T
• gnomAD v4: 8-19951750-C-T
• MyVariant Identifiers: chr8:g.19809261C>T (hg19) ; chr8:g.19809261_19809262delinsTT (hg19) ; chr8:g.19951750C>T (hg38) ; chr8:g.19951750_19951751delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951750C>T , CM000670.2:g.19951750C>T	GRCh38
NC_000008.10:g.19809261C>T , CM000670.1:g.19809261C>T	GRCh37
NC_000008.9:g.19853541C>T	NCBI36
NG_008855.1:g.17680C>T
NG_008855.2:g.55034C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.250-19C>T MANE Select	ENSP00000497642.1:n.250-19C>T
ENST00000311322.8:c.250-19C>T	ENSP00000309757.6:n.250-19C>T
ENST00000520959.5:c.22-19C>T	ENSP00000428496.1:n.22-19C>T
ENST00000521994.1:n.488C>T
ENST00000522701.5:c.250-19C>T	ENSP00000428557.1:n.250-19C>T
ENST00000524029.5:c.250-19C>T	ENSP00000428237.1:n.250-19C>T
NM_000237.2:c.250-19C>T	NP_000228.1:n.250-19C>T
NM_000237.3:c.250-19C>T MANE Select	NP_000228.1:n.250-19C>T