Canonical Allele Identifier: CA370467596
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1371142666
gnomAD v2: 8-19809371-T-A
gnomAD v3: 8-19951860-T-A
gnomAD v4: 8-19951860-T-A
MyVariant Identifiers: chr8:g.19809371T>A (hg19) chr8:g.19951860T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951860T>A , CM000670.2:g.19951860T>A GRCh38
NC_000008.10:g.19809371T>A , CM000670.1:g.19809371T>A GRCh37
NC_000008.9:g.19853651T>A NCBI36
NG_008855.1:g.17790T>A
NG_008855.2:g.55144T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.341T>A MANE Select ENSP00000497642.1:p.Leu114Gln
ENST00000311322.8:c.341T>A ENSP00000309757.6:p.Leu114Gln
ENST00000520959.5:c.113T>A ENSP00000428496.1:p.Leu38Gln
ENST00000524029.5:c.341T>A ENSP00000428237.1:p.Leu114Gln
NM_000237.2:c.341T>A NP_000228.1:p.Leu114Gln
NM_000237.3:c.341T>A MANE Select NP_000228.1:p.Leu114Gln
Search 100 bp 5'
Search 100 bp 3'