Canonical Allele Identifier: CA251861
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1522
dbSNP Id: rs118204057

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954222G>A , CM000670.2:g.19954222G>A GRCh38
NC_000008.10:g.19811733G>A , CM000670.1:g.19811733G>A GRCh37
NC_000008.9:g.19856013G>A NCBI36
NG_008855.1:g.20152G>A
NG_008855.2:g.57506G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.644G>A MANE Select ENSP00000497642.1:p.Gly215Glu
ENST00000311322.8:c.644G>A ENSP00000309757.6:p.Gly215Glu
NM_000237.2:c.644G>A NP_000228.1:p.Gly215Glu
NM_000237.3:c.644G>A MANE Select NP_000228.1:p.Gly215Glu