Canonical Allele Identifier: CA4655646
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1278475
ClinVar RCV Id: RCV001688083
dbSNP Id: rs301
ExAC: 8:19816934 T / C
gnomAD v2: 8-19816934-T-C
gnomAD v3: 8-19959423-T-C
gnomAD v4: 8-19959423-T-C
MyVariant Identifiers: chr8:g.19816934T>C (hg19) chr8:g.19959423T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19959423T>C , CM000670.2:g.19959423T>C GRCh38
NC_000008.10:g.19816934T>C , CM000670.1:g.19816934T>C GRCh37
NC_000008.9:g.19861214T>C NCBI36
NG_008855.1:g.25353T>C
NG_008855.2:g.62707T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1139+43T>C MANE Select ENSP00000497642.1:n.1139+43T>C
ENST00000650478.1:c.80-1478T>C ENSP00000497560.1:n.80-1478T>C
ENST00000311322.8:c.1139+43T>C ENSP00000309757.6:n.1139+43T>C
NM_000237.2:c.1139+43T>C NP_000228.1:n.1139+43T>C
NM_000237.3:c.1139+43T>C MANE Select NP_000228.1:n.1139+43T>C
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