Canonical Allele Identifier: CA15570713
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19961817T>C
GRCh37 chr8:g.19819328T>C
gnomAD v2:
8:19819328 T / C
gnomAD v3:
8:19961817 T / C
gnomAD v4:
chr8-19961817-T-C
Joint Max Group AF 0.10212758 (EAS)
Genomes Max Group AF 0.10212758 (EAS)
ClinVar RCV:
RCV001528041
ClinVar Variation:
1174434
dbSNP:
325
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961817T>C , CM000670.2:g.19961817T>C GRCh38
NC_000008.10:g.19819328T>C , CM000670.1:g.19819328T>C GRCh37
NC_000008.9:g.19863608T>C NCBI36
NG_008855.1:g.27747T>C
NG_008855.2:g.65101T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1323-298T>C MANE Select ENSP00000497642.1:n.1323-298T>C
ENST00000650478.1:c.263-298T>C ENSP00000497560.1:n.263-298T>C
ENST00000311322.8:c.1323-298T>C ENSP00000309757.6:n.1323-298T>C
NM_000237.2:c.1323-298T>C NP_000228.1:n.1323-298T>C
NM_000237.3:c.1323-298T>C MANE Select NP_000228.1:n.1323-298T>C
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