Canonical Allele Identifier: CA5423814
Gene: CUBN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16933122C>T , CM000672.2:g.16933122C>T GRCh38
NC_000010.10:g.16975121C>T , CM000672.1:g.16975121C>T GRCh37
NC_000010.9:g.17015127C>T NCBI36
NG_008967.1:g.201696G>A , LRG_540:g.201696G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.6089G>A MANE Select ENSP00000367064.4:p.Arg2030Gln
ENST00000377833.8:c.6089G>A ENSP00000367064.4:p.Arg2030Gln
NM_001081.3:c.6089G>A , LRG_540t1:c.6089G>A NP_001072.2:p.Arg2030Gln
XM_011519708.1:c.6089G>A XP_011518010.1:p.Arg2030Gln
XM_011519709.1:c.2075G>A XP_011518011.1:p.Arg692Gln
XM_011519710.1:c.2051G>A XP_011518012.1:p.Arg684Gln
XM_011519711.1:c.1931G>A XP_011518013.1:p.Arg644Gln
XM_011519708.2:c.6089G>A XP_011518010.1:p.Arg2030Gln
XM_011519709.2:c.2075G>A XP_011518011.1:p.Arg692Gln
XM_011519710.2:c.2051G>A XP_011518012.1:p.Arg684Gln
XM_011519711.3:c.1931G>A XP_011518013.1:p.Arg644Gln
NM_001081.4:c.6089G>A MANE Select NP_001072.2:p.Arg2030Gln