Canonical Allele Identifier: CA4655515
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1561021
ClinVar RCV Id: RCV002211520
dbSNP Id: rs183940705
ExAC: 8:19811883 C / T
gnomAD v2: 8-19811883-C-T
gnomAD v3: 8-19954372-C-T
gnomAD v4: 8-19954372-C-T
MyVariant Identifiers: chr8:g.19811883C>T (hg19) chr8:g.19954372C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954372C>T , CM000670.2:g.19954372C>T GRCh38
NC_000008.10:g.19811883C>T , CM000670.1:g.19811883C>T GRCh37
NC_000008.9:g.19856163C>T NCBI36
NG_008855.1:g.20302C>T
NG_008855.2:g.57656C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+19C>T MANE Select ENSP00000497642.1:n.775+19C>T
ENST00000311322.8:c.775+19C>T ENSP00000309757.6:n.775+19C>T
NM_000237.2:c.775+19C>T NP_000228.1:n.775+19C>T
NM_000237.3:c.775+19C>T MANE Select NP_000228.1:n.775+19C>T
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