Canonical Allele Identifier: CA4655479
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19954176C>T
GRCh37 chr8:g.19811687C>T
Revel Score:
ENST00000311322 0.592
ENST00000538071 0.592
ENST00000535763 0.592
gnomAD v2:
8:19811687 C / T
gnomAD v4:
chr8-19954176-C-T
Joint Max Group AF 0.00014087 (AMR)
Exomes Max Group AF 0.00018884 (AMR)
ClinVar RCV:
RCV002357873
ClinVar Variation:
1750886
dbSNP:
773002707
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954176C>T , CM000670.2:g.19954176C>T GRCh38
NC_000008.10:g.19811687C>T , CM000670.1:g.19811687C>T GRCh37
NC_000008.9:g.19855967C>T NCBI36
NG_008855.1:g.20106C>T
NG_008855.2:g.57460C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.598C>T MANE Select ENSP00000497642.1:p.Pro200Ser
ENST00000311322.8:c.598C>T ENSP00000309757.6:p.Pro200Ser
NM_000237.2:c.598C>T NP_000228.1:p.Pro200Ser
NM_000237.3:c.598C>T MANE Select NP_000228.1:p.Pro200Ser
Search 100 bp 5'
Search 100 bp 3'