Canonical Allele Identifier: CA251883
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1545
ClinVar RCV Id: RCV000001610
dbSNP Id: rs118204073
gnomAD v2: 8-19809336-A-C
gnomAD v3: 8-19951825-A-C
gnomAD v4: 8-19951825-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951825A>C , CM000670.2:g.19951825A>C GRCh38
NC_000008.10:g.19809336A>C , CM000670.1:g.19809336A>C GRCh37
NC_000008.9:g.19853616A>C NCBI36
NG_008855.1:g.17755A>C
NG_008855.2:g.55109A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.306A>C MANE Select ENSP00000497642.1:p.Arg102Ser
ENST00000311322.8:c.306A>C ENSP00000309757.6:p.Arg102Ser
ENST00000520959.5:c.78A>C ENSP00000428496.1:p.Arg26Ser
ENST00000521994.1:n.563A>C
ENST00000522701.5:c.306A>C ENSP00000428557.1:p.Arg102Ser
ENST00000524029.5:c.306A>C ENSP00000428237.1:p.Arg102Ser
NM_000237.2:c.306A>C NP_000228.1:p.Arg102Ser
NM_000237.3:c.306A>C MANE Select NP_000228.1:p.Arg102Ser