Canonical Allele Identifier: CA251885
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19954199C>G
GRCh37 chr8:g.19811710C>G
Revel Score:
ENST00000311322 0.599
ENST00000538071 0.599
ENST00000535763 0.599
gnomAD v4:
chr8-19954199-C-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000001612
RCV001851557
ClinVar Variation:
1547
dbSNP:
118204076
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954199C>G , CM000670.2:g.19954199C>G GRCh38
NC_000008.10:g.19811710C>G , CM000670.1:g.19811710C>G GRCh37
NC_000008.9:g.19855990C>G NCBI36
NG_008855.1:g.20129C>G
NG_008855.2:g.57483C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.621C>G MANE Select ENSP00000497642.1:p.Asp207Glu
ENST00000311322.8:c.621C>G ENSP00000309757.6:p.Asp207Glu
NM_000237.2:c.621C>G NP_000228.1:p.Asp207Glu
NM_000237.3:c.621C>G MANE Select NP_000228.1:p.Asp207Glu
Search 100 bp 5'
Search 100 bp 3'