Canonical Allele Identifier: CA130748
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 40131
dbSNP Id: rs13702

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19966981T>C , CM000670.2:g.19966981T>C GRCh38
NC_000008.10:g.19824492T>C , CM000670.1:g.19824492T>C GRCh37
NC_000008.9:g.19868772T>C NCBI36
NG_008855.1:g.32911T>C
NG_008855.2:g.70265T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.*1671T>C MANE Select ENSP00000497642.1:p.=
ENST00000650478.1:n.2039T>C ENSP00000497560.1:p.=
ENST00000311322.8:c.*1671T>C ENSP00000309757.6:p.=
NM_000237.2:c.*1671T>C NP_000228.1:p.=
NM_000237.3:c.*1671T>C MANE Select NP_000228.1:p.=