Canonical Allele Identifier: CA370468319
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs544932321
gnomAD v2: 8-19811661-A-G
gnomAD v4: 8-19954150-A-G
MyVariant Identifiers: chr8:g.19811661A>G (hg19) chr8:g.19954150A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954150A>G , CM000670.2:g.19954150A>G GRCh38
NC_000008.10:g.19811661A>G , CM000670.1:g.19811661A>G GRCh37
NC_000008.9:g.19855941A>G NCBI36
NG_008855.1:g.20080A>G
NG_008855.2:g.57434A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.572A>G MANE Select ENSP00000497642.1:p.Tyr191Cys
ENST00000311322.8:c.572A>G ENSP00000309757.6:p.Tyr191Cys
ENST00000520959.5:c.344A>G ENSP00000428496.1:p.Tyr115Cys
NM_000237.2:c.572A>G NP_000228.1:p.Tyr191Cys
NM_000237.3:c.572A>G MANE Select NP_000228.1:p.Tyr191Cys
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