Canonical Allele Identifier: CA4655520
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1182670
ClinVar RCV Id: RCV001540357
dbSNP Id: rs255
ExAC: 8:19811901 T / C
gnomAD v2: 8-19811901-T-C
gnomAD v3: 8-19954390-T-C
gnomAD v4: 8-19954390-T-C
MyVariant Identifiers: chr8:g.19811901T>C (hg19) chr8:g.19954390T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954390T>C , CM000670.2:g.19954390T>C GRCh38
NC_000008.10:g.19811901T>C , CM000670.1:g.19811901T>C GRCh37
NC_000008.9:g.19856181T>C NCBI36
NG_008855.1:g.20320T>C
NG_008855.2:g.57674T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+37T>C MANE Select ENSP00000497642.1:n.775+37T>C
ENST00000311322.8:c.775+37T>C ENSP00000309757.6:n.775+37T>C
NM_000237.2:c.775+37T>C NP_000228.1:n.775+37T>C
NM_000237.3:c.775+37T>C MANE Select NP_000228.1:n.775+37T>C
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