Canonical Allele Identifier: CA344996417
Gene: LBR HGNC NCBI
ClinVar Variation:
COSMIC:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225411351C>T , CM000663.2:g.225411351C>T GRCh38
NC_000001.10:g.225599053C>T , CM000663.1:g.225599053C>T GRCh37
NC_000001.9:g.223665676C>T NCBI36
NG_008099.1:g.22467G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272163.9:c.1174G>A MANE Select ENSP00000272163.4:p.Gly392Arg
ENST00000651341.1:c.1174G>A ENSP00000499114.1:p.Gly392Arg
ENST00000272163.8:c.1174G>A ENSP00000272163.4:p.Gly392Arg
ENST00000338179.6:c.1174G>A ENSP00000339883.2:p.Gly392Arg
ENST00000424022.2:n.67G>A
NM_002296.3:c.1174G>A NP_002287.2:p.Gly392Arg
NM_194442.2:c.1174G>A NP_919424.1:p.Gly392Arg
XM_005273125.2:c.1174G>A XP_005273182.1:p.Gly392Arg
XM_011544185.1:c.1174G>A XP_011542487.1:p.Gly392Arg
XM_011544186.1:c.1174G>A XP_011542488.1:p.Gly392Arg
XM_011544187.1:c.1085-935G>A XP_011542489.1:n.1085-935G>A
XM_005273125.3:c.1174G>A XP_005273182.1:p.Gly392Arg
XM_011544185.3:c.1174G>A XP_011542487.1:p.Gly392Arg
XR_001737168.2:n.1212-935G>A
NM_002296.4:c.1174G>A MANE Select NP_002287.2:p.Gly392Arg
NM_194442.3:c.1174G>A NP_919424.1:p.Gly392Arg