Canonical Allele Identifier: CA370468263
Gene: LPL HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954123T>G , CM000670.2:g.19954123T>G GRCh38
NC_000008.10:g.19811634T>G , CM000670.1:g.19811634T>G GRCh37
NC_000008.9:g.19855914T>G NCBI36
NG_008855.1:g.20053T>G
NG_008855.2:g.57407T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.545T>G MANE Select ENSP00000497642.1:p.Leu182Arg
ENST00000311322.8:c.545T>G ENSP00000309757.6:p.Leu182Arg
ENST00000520959.5:c.317T>G ENSP00000428496.1:p.Leu106Arg
NM_000237.2:c.545T>G NP_000228.1:p.Leu182Arg
NM_000237.3:c.545T>G MANE Select NP_000228.1:p.Leu182Arg