Canonical Allele Identifier: CA1417451
Gene: LBR HGNC NCBI
COSMIC:
COSM5000709 (not active)
MyVariant.info:
GRCh38 chr1:g.225419442C>T
GRCh37 chr1:g.225607144C>T
Revel Score:
ENST00000272163 (MANE Select) 0.167
ENST00000338179 0.167
ENST00000425080 0.167
gnomAD v2:
1:225607144 C / T
gnomAD v3:
1:225419442 C / T
gnomAD v4:
chr1-225419442-C-T
Joint Max Group AF 0.95392966 (EAS)
Genomes Max Group AF 0.93470278 (EAS)
Exomes Max Group AF 0.95404448 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225419442C>T , CM000663.2:g.225419442C>T GRCh38
NC_000001.10:g.225607144C>T , CM000663.1:g.225607144C>T GRCh37
NC_000001.9:g.223673767C>T NCBI36
NG_008099.1:g.14376G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272163.9:c.461G>A MANE Select ENSP00000272163.4:p.Ser154Asn
ENST00000651341.1:c.461G>A ENSP00000499114.1:p.Ser154Asn
ENST00000272163.8:c.461G>A ENSP00000272163.4:p.Ser154Asn
ENST00000338179.6:c.461G>A ENSP00000339883.2:p.Ser154Asn
ENST00000425080.1:c.461G>A ENSP00000388059.1:p.Ser154Asn
NM_002296.3:c.461G>A NP_002287.2:p.Ser154Asn
NM_194442.2:c.461G>A NP_919424.1:p.Ser154Asn
XM_005273125.2:c.461G>A XP_005273182.1:p.Ser154Asn
XM_011544185.1:c.461G>A XP_011542487.1:p.Ser154Asn
XM_011544186.1:c.461G>A XP_011542488.1:p.Ser154Asn
XM_011544187.1:c.461G>A XP_011542489.1:p.Ser154Asn
XM_005273125.3:c.461G>A XP_005273182.1:p.Ser154Asn
XM_011544185.3:c.461G>A XP_011542487.1:p.Ser154Asn
XR_001737168.2:n.588G>A
NM_002296.4:c.461G>A MANE Select NP_002287.2:p.Ser154Asn
NM_194442.3:c.461G>A NP_919424.1:p.Ser154Asn
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