Canonical Allele Identifier: CA251888
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1551
ClinVar RCV Id: RCV000001616
dbSNP Id: rs118204078

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960935C>G , CM000670.2:g.19960935C>G GRCh38
NC_000008.10:g.19818446C>G , CM000670.1:g.19818446C>G GRCh37
NC_000008.9:g.19862726C>G NCBI36
NG_008855.1:g.26865C>G
NG_008855.2:g.64219C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1174C>G MANE Select ENSP00000497642.1:p.Leu392Val
ENST00000650478.1:n.114C>G ENSP00000497560.1:p.Ser38=
ENST00000311322.8:c.1174C>G ENSP00000309757.6:p.Leu392Val
NM_000237.2:c.1174C>G NP_000228.1:p.Leu392Val
NM_000237.3:c.1174C>G MANE Select NP_000228.1:p.Leu392Val