Canonical Allele Identifier: CA251866
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1528
ClinVar RCV Id: RCV000001592
dbSNP Id: rs118204067

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954271C>G , CM000670.2:g.19954271C>G GRCh38
NC_000008.10:g.19811782C>G , CM000670.1:g.19811782C>G GRCh37
NC_000008.9:g.19856062C>G NCBI36
NG_008855.1:g.20201C>G
NG_008855.2:g.57555C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.693C>G MANE Select ENSP00000497642.1:p.Asp231Glu
ENST00000311322.8:c.693C>G ENSP00000309757.6:p.Asp231Glu
NM_000237.2:c.693C>G NP_000228.1:p.Asp231Glu
NM_000237.3:c.693C>G MANE Select NP_000228.1:p.Asp231Glu