Canonical Allele Identifier: CA251860
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19954185G>A
GRCh37 chr8:g.19811696G>A
Revel Score:
ENST00000311322 0.861
ENST00000538071 0.861
ENST00000535763 0.861
ClinVar RCV:
RCV000001583
ClinVar Variation:
1519
dbSNP:
118204056
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954185G>A , CM000670.2:g.19954185G>A GRCh38
NC_000008.10:g.19811696G>A , CM000670.1:g.19811696G>A GRCh37
NC_000008.9:g.19855976G>A NCBI36
NG_008855.1:g.20115G>A
NG_008855.2:g.57469G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.607G>A MANE Select ENSP00000497642.1:p.Ala203Thr
ENST00000311322.8:c.607G>A ENSP00000309757.6:p.Ala203Thr
NM_000237.2:c.607G>A NP_000228.1:p.Ala203Thr
NM_000237.3:c.607G>A MANE Select NP_000228.1:p.Ala203Thr
Search 100 bp 5'
Search 100 bp 3'