Canonical Allele Identifier: CA10630657

Gene: LPL

Linked Data

• ClinVar Variation Id: 362452
• ClinVar RCV Id: RCV000329468 ; RCV001637000
• dbSNP Id: rs15285
• gnomAD v2: 8-19824667-C-T
• gnomAD v3: 8-19967156-C-T
• gnomAD v4: 8-19967156-C-T
• MyVariant Identifiers: chr8:g.19824667C>T (hg19) ; chr8:g.19967156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19967156C>T , CM000670.2:g.19967156C>T	GRCh38
NC_000008.10:g.19824667C>T , CM000670.1:g.19824667C>T	GRCh37
NC_000008.9:g.19868947C>T	NCBI36
NG_008855.1:g.33086C>T
NG_008855.2:g.70440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.*1846C>T MANE Select	ENSP00000497642.1:n.*1846C>T
ENST00000650478.1:c.2214C>T	ENSP00000497560.1:n.2214C>T
ENST00000311322.8:c.*1846C>T	ENSP00000309757.6:n.*1846C>T
NM_000237.2:c.*1846C>T	NP_000228.1:n.*1846C>T
NM_000237.3:c.*1846C>T MANE Select	NP_000228.1:n.*1846C>T