Canonical Allele Identifier: CA173377502
Gene: LPL HGNC NCBI
COSMIC:
COSM3785920 (not active)
MyVariant.info:
GRCh38 chr8:g.19954234G>A
GRCh37 chr8:g.19811745G>A
Revel Score:
ENST00000311322 0.614
ENST00000538071 0.614
ENST00000535763 0.614
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954234G>A , CM000670.2:g.19954234G>A GRCh38
NC_000008.10:g.19811745G>A , CM000670.1:g.19811745G>A GRCh37
NC_000008.9:g.19856025G>A NCBI36
NG_008855.1:g.20164G>A
NG_008855.2:g.57518G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.656G>A MANE Select ENSP00000497642.1:p.Arg219Gln
ENST00000311322.8:c.656G>A ENSP00000309757.6:p.Arg219Gln
NM_000237.2:c.656G>A NP_000228.1:p.Arg219Gln
NM_000237.3:c.656G>A MANE Select NP_000228.1:p.Arg219Gln
Search 100 bp 5'
Search 100 bp 3'