Canonical Allele Identifier: CA370467487

Gene: LPL

Linked Data

• dbSNP Id: rs2069936696
• MyVariant Identifiers: chr8:g.19809329A>G (hg19) ; chr8:g.19951818A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951818A>G , CM000670.2:g.19951818A>G	GRCh38
NC_000008.10:g.19809329A>G , CM000670.1:g.19809329A>G	GRCh37
NC_000008.9:g.19853609A>G	NCBI36
NG_008855.1:g.17748A>G
NG_008855.2:g.55102A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.299A>G MANE Select	ENSP00000497642.1:p.Tyr100Cys
ENST00000311322.8:c.299A>G	ENSP00000309757.6:p.Tyr100Cys
ENST00000520959.5:c.71A>G	ENSP00000428496.1:p.Tyr24Cys
ENST00000521994.1:n.556A>G
ENST00000522701.5:c.299A>G	ENSP00000428557.1:p.Tyr100Cys
ENST00000524029.5:c.299A>G	ENSP00000428237.1:p.Tyr100Cys
NM_000237.2:c.299A>G	NP_000228.1:p.Tyr100Cys
NM_000237.3:c.299A>G MANE Select	NP_000228.1:p.Tyr100Cys