Canonical Allele Identifier: CA370468312
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2735128
ClinVar RCV Id: RCV003557375

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954147A>G , CM000670.2:g.19954147A>G GRCh38
NC_000008.10:g.19811658A>G , CM000670.1:g.19811658A>G GRCh37
NC_000008.9:g.19855938A>G NCBI36
NG_008855.1:g.20077A>G
NG_008855.2:g.57431A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.569A>G MANE Select ENSP00000497642.1:p.Glu190Gly
ENST00000311322.8:c.569A>G ENSP00000309757.6:p.Glu190Gly
ENST00000520959.5:c.341A>G ENSP00000428496.1:p.Glu114Gly
NM_000237.2:c.569A>G NP_000228.1:p.Glu190Gly
NM_000237.3:c.569A>G MANE Select NP_000228.1:p.Glu190Gly