Canonical Allele Identifier: CA10630657
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 362452
dbSNP Id: rs15285
gnomAD v2: 8-19824667-C-T
gnomAD v3: 8-19967156-C-T
gnomAD v4: 8-19967156-C-T

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