Canonical Allele Identifier: CA2550226220
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2804234
ClinVar RCV Id: RCV003683946

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955833T>C , CM000670.2:g.19955833T>C GRCh38
NC_000008.10:g.19813344T>C , CM000670.1:g.19813344T>C GRCh37
NC_000008.9:g.19857624T>C NCBI36
NG_008855.1:g.21763T>C
NG_008855.2:g.59117T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.776-8T>C MANE Select ENSP00000497642.1:n.776-8T>C
ENST00000311322.8:c.776-8T>C ENSP00000309757.6:n.776-8T>C
NM_000237.2:c.776-8T>C NP_000228.1:n.776-8T>C
NM_000237.3:c.776-8T>C MANE Select NP_000228.1:n.776-8T>C