Canonical Allele Identifier: CA370467683
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1520537
ClinVar RCV Id: RCV002027644
dbSNP Id: rs1231383321
gnomAD v2: 8-19809413-C-A
gnomAD v3: 8-19951902-C-A
gnomAD v4: 8-19951902-C-A
MyVariant Identifiers: chr8:g.19809413C>A (hg19) chr8:g.19951902C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951902C>A , CM000670.2:g.19951902C>A GRCh38
NC_000008.10:g.19809413C>A , CM000670.1:g.19809413C>A GRCh37
NC_000008.9:g.19853693C>A NCBI36
NG_008855.1:g.17832C>A
NG_008855.2:g.55186C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.383C>A MANE Select ENSP00000497642.1:p.Thr128Asn
ENST00000311322.8:c.383C>A ENSP00000309757.6:p.Thr128Asn
ENST00000520959.5:c.155C>A ENSP00000428496.1:p.Thr52Asn
ENST00000524029.5:c.383C>A ENSP00000428237.1:p.Thr128Asn
NM_000237.2:c.383C>A NP_000228.1:p.Thr128Asn
NM_000237.3:c.383C>A MANE Select NP_000228.1:p.Thr128Asn
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