Canonical Allele Identifier: CA15570713
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1174434
ClinVar RCV Id: RCV001528041
dbSNP Id: rs325

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961817T>C , CM000670.2:g.19961817T>C GRCh38
NC_000008.10:g.19819328T>C , CM000670.1:g.19819328T>C GRCh37
NC_000008.9:g.19863608T>C NCBI36
NG_008855.1:g.27747T>C
NG_008855.2:g.65101T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1323-298T>C MANE Select ENSP00000497642.1:p.=
ENST00000650478.1:n.263-298T>C ENSP00000497560.1:p.=
ENST00000311322.8:c.1323-298T>C ENSP00000309757.6:p.=
NM_000237.2:c.1323-298T>C NP_000228.1:p.=
NM_000237.3:c.1323-298T>C MANE Select NP_000228.1:p.=