Canonical Allele Identifier: CA370468321
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2814855
ClinVar RCV Id: RCV003683130
gnomAD v4: 8-19954151-T-G
MyVariant Identifiers: chr8:g.19811662T>G (hg19) chr8:g.19954151T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954151T>G , CM000670.2:g.19954151T>G GRCh38
NC_000008.10:g.19811662T>G , CM000670.1:g.19811662T>G GRCh37
NC_000008.9:g.19855942T>G NCBI36
NG_008855.1:g.20081T>G
NG_008855.2:g.57435T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.573T>G MANE Select ENSP00000497642.1:p.Tyr191Ter
ENST00000311322.8:c.573T>G ENSP00000309757.6:p.Tyr191Ter
ENST00000520959.5:c.345T>G ENSP00000428496.1:p.Tyr115Ter
NM_000237.2:c.573T>G NP_000228.1:p.Tyr191Ter
NM_000237.3:c.573T>G MANE Select NP_000228.1:p.Tyr191Ter
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