Canonical Allele Identifier: CA360725649
Gene: LMNB1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.126777777G>C
GRCh37 chr5:g.126113469G>C
Revel Score:
ENST00000261366 (MANE Select) 0.838
ENST00000395354 0.838
ClinVar RCV:
RCV001292581
ClinVar Variation:
997433
dbSNP:
1750506249
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126777777G>C , CM000667.2:g.126777777G>C GRCh38
NC_000005.9:g.126113469G>C , CM000667.1:g.126113469G>C GRCh37
NC_000005.8:g.126141368G>C NCBI36
NG_008360.2:g.5637G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261366.10:c.269G>C MANE Select ENSP00000261366.5:p.Arg90Pro
ENST00000261366.9:c.269G>C ENSP00000261366.5:p.Arg90Pro
ENST00000395354.1:c.269G>C ENSP00000378761.1:p.Arg90Pro
ENST00000460265.5:c.269G>C ENSP00000486528.1:p.Arg90Pro
ENST00000463908.2:n.108G>C
ENST00000472034.5:n.92+525G>C
ENST00000492190.5:c.269G>C ENSP00000486992.1:p.Arg90Pro
ENST00000504788.5:n.92+533G>C
NM_001198557.1:c.-272+533G>C NP_001185486.1:n.-272+533G>C
NM_005573.3:c.269G>C NP_005564.1:p.Arg90Pro
XR_948250.1:n.633G>C
NR_134488.1:n.1155G>C
NM_005573.4:c.269G>C MANE Select NP_005564.1:p.Arg90Pro
NM_001198557.2:c.-272+533G>C NP_001185486.1:n.-272+533G>C
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