Canonical Allele Identifier: CA251877
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1539
ClinVar RCV Id: RCV000001604
dbSNP Id: rs118204068
ExAC: 8:19813405 G / A
gnomAD: 8:19813405 G / A
MyVariant Identifiers: chr8:g.19813405G>A (hg19) chr8:g.19955894G>A (hg38)
PubMed: PMID:1639392
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955894G>A , CM000670.2:g.19955894G>A GRCh38
NC_000008.10:g.19813405G>A , CM000670.1:g.19813405G>A GRCh37
NC_000008.9:g.19857685G>A NCBI36
NG_008855.1:g.21824G>A
NG_008855.2:g.59178G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.829G>A MANE Select ENSP00000497642.1:p.Asp277Asn
ENST00000311322.8:c.829G>A ENSP00000309757.6:p.Asp277Asn
NM_000237.2:c.829G>A NP_000228.1:p.Asp277Asn
NM_000237.3:c.829G>A MANE Select NP_000228.1:p.Asp277Asn
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