Canonical Allele Identifier: CA4655464
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1641811
ClinVar RCV Id: RCV002153387
dbSNP Id: rs751730014
ExAC: 8:19811627 T / C
gnomAD v2: 8-19811627-T-C
gnomAD v4: 8-19954116-T-C
MyVariant Identifiers: chr8:g.19811627T>C (hg19) chr8:g.19954116T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954116T>C , CM000670.2:g.19954116T>C GRCh38
NC_000008.10:g.19811627T>C , CM000670.1:g.19811627T>C GRCh37
NC_000008.9:g.19855907T>C NCBI36
NG_008855.1:g.20046T>C
NG_008855.2:g.57400T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.542-4T>C MANE Select ENSP00000497642.1:n.542-4T>C
ENST00000311322.8:c.542-4T>C ENSP00000309757.6:n.542-4T>C
ENST00000520959.5:c.314-4T>C ENSP00000428496.1:n.314-4T>C
NM_000237.2:c.542-4T>C NP_000228.1:n.542-4T>C
NM_000237.3:c.542-4T>C MANE Select NP_000228.1:n.542-4T>C
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