Canonical Allele Identifier: CA370468270
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19954128C>T
GRCh37 chr8:g.19811639C>T
Revel Score:
ENST00000520959 0.810
ENST00000311322 0.810
ENST00000538071 0.810
ENST00000535763 0.810
ClinVar RCV:
RCV003152950
ClinVar Variation:
2444152
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954128C>T , CM000670.2:g.19954128C>T GRCh38
NC_000008.10:g.19811639C>T , CM000670.1:g.19811639C>T GRCh37
NC_000008.9:g.19855919C>T NCBI36
NG_008855.1:g.20058C>T
NG_008855.2:g.57412C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.550C>T MANE Select ENSP00000497642.1:p.Pro184Ser
ENST00000311322.8:c.550C>T ENSP00000309757.6:p.Pro184Ser
ENST00000520959.5:c.322C>T ENSP00000428496.1:p.Pro108Ser
NM_000237.2:c.550C>T NP_000228.1:p.Pro184Ser
NM_000237.3:c.550C>T MANE Select NP_000228.1:p.Pro184Ser
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