Canonical Allele Identifier: CA251889

Gene: LPL

Linked Data

• ClinVar Variation Id: 1552
• ClinVar RCV Id: RCV000001617 ; RCV000157298 ; RCV000454647 ; RCV000352575 ; 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

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