Canonical Allele Identifier: CA4655500
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 763319
ClinVar RCV Id: RCV000941546
dbSNP Id: rs760836457
ExAC: 8:19811806 T / C
gnomAD v2: 8-19811806-T-C
gnomAD v4: 8-19954295-T-C
MyVariant Identifiers: chr8:g.19811806T>C (hg19) chr8:g.19954295T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954295T>C , CM000670.2:g.19954295T>C GRCh38
NC_000008.10:g.19811806T>C , CM000670.1:g.19811806T>C GRCh37
NC_000008.9:g.19856086T>C NCBI36
NG_008855.1:g.20225T>C
NG_008855.2:g.57579T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.717T>C MANE Select ENSP00000497642.1:p.Phe239=
ENST00000311322.8:c.717T>C ENSP00000309757.6:p.Phe239=
NM_000237.2:c.717T>C NP_000228.1:p.Phe239=
NM_000237.3:c.717T>C MANE Select NP_000228.1:p.Phe239=
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