Canonical Allele Identifier: CA4655259
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1704488
ClinVar RCV Id: RCV002282815 RCV002373078
dbSNP Id: rs367592716
ExAC: 8:19796959 G / A
gnomAD v2: 8-19796959-G-A
gnomAD v3: 8-19939448-G-A
gnomAD v4: 8-19939448-G-A
MyVariant Identifiers: chr8:g.19796959G>A (hg19) chr8:g.19939448G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939448G>A , CM000670.2:g.19939448G>A GRCh38
NC_000008.10:g.19796959G>A , CM000670.1:g.19796959G>A GRCh37
NC_000008.9:g.19841239G>A NCBI36
NG_008855.1:g.5378G>A
NG_008855.2:g.42732G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.8G>A MANE Select ENSP00000497642.1:p.Ser3Asn
ENST00000311322.8:c.8G>A ENSP00000309757.6:p.Ser3Asn
ENST00000519773.1:c.8G>A ENSP00000431028.1:p.Ser3Asn
ENST00000520959.5:c.-140-8732G>A ENSP00000428496.1:n.-140-8732G>A
ENST00000521994.1:n.193G>A
ENST00000522701.5:c.8G>A ENSP00000428557.1:p.Ser3Asn
ENST00000523696.1:n.77G>A
ENST00000524029.5:c.8G>A ENSP00000428237.1:p.Ser3Asn
NM_000237.2:c.8G>A NP_000228.1:p.Ser3Asn
NM_000237.3:c.8G>A MANE Select NP_000228.1:p.Ser3Asn
Search 100 bp 5'
Search 100 bp 3'