Canonical Allele Identifier: CA251867
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1529
dbSNP Id: rs118204061
gnomAD v2: 8-19811751-T-C
gnomAD v3: 8-19954240-T-C
gnomAD v4: 8-19954240-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954240T>C , CM000670.2:g.19954240T>C GRCh38
NC_000008.10:g.19811751T>C , CM000670.1:g.19811751T>C GRCh37
NC_000008.9:g.19856031T>C NCBI36
NG_008855.1:g.20170T>C
NG_008855.2:g.57524T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.662T>C MANE Select ENSP00000497642.1:p.Ile221Thr
ENST00000311322.8:c.662T>C ENSP00000309757.6:p.Ile221Thr
NM_000237.2:c.662T>C NP_000228.1:p.Ile221Thr
NM_000237.3:c.662T>C MANE Select NP_000228.1:p.Ile221Thr