Canonical Allele Identifier: CA251889
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1552
ClinVar RCV Id: RCV000001617 RCV000157298 RCV000352575 RCV000454647 RCV000733476 RCV002408446 RCV003924794
dbSNP Id: rs1801177
ExAC: 8:19805708 G / A
gnomAD v2: 8-19805708-G-A
gnomAD v3: 8-19948197-G-A
gnomAD v4: 8-19948197-G-A
COSMIC: COSM3432253
MyVariant Identifiers: chr8:g.19805708G>A (hg19) chr8:g.19948197G>A (hg38)
PubMed: PMID:8199176 PMID:8541837 PMID:8872057 PMID:10364086 PMID:10517255 PMID:12535736 PMID:21146168
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19948197G>A , CM000670.2:g.19948197G>A GRCh38
NC_000008.10:g.19805708G>A , CM000670.1:g.19805708G>A GRCh37
NC_000008.9:g.19849988G>A NCBI36
NG_008855.1:g.14127G>A
NG_008855.2:g.51481G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.106G>A MANE Select ENSP00000497642.1:p.Asp36Asn
ENST00000311322.8:c.106G>A ENSP00000309757.6:p.Asp36Asn
ENST00000519773.1:c.*143G>A ENSP00000431028.1:n.*143G>A
ENST00000520959.5:c.-123G>A ENSP00000428496.1:n.-123G>A
ENST00000521994.1:n.291G>A
ENST00000522701.5:c.106G>A ENSP00000428557.1:p.Asp36Asn
ENST00000523696.1:n.175G>A
ENST00000524029.5:c.106G>A ENSP00000428237.1:p.Asp36Asn
NM_000237.2:c.106G>A NP_000228.1:p.Asp36Asn
NM_000237.3:c.106G>A MANE Select NP_000228.1:p.Asp36Asn
Search 100 bp 5'
Search 100 bp 3'