Canonical Allele Identifier: CA5422474
Gene: CUBN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16836296G>T , CM000672.2:g.16836296G>T GRCh38
NC_000010.10:g.16878295G>T , CM000672.1:g.16878295G>T GRCh37
NC_000010.9:g.16918301G>T NCBI36
NG_008967.1:g.298522C>A , LRG_540:g.298522C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.10119C>A MANE Select ENSP00000367064.4:p.Val3373=
ENST00000377833.8:c.10119C>A ENSP00000367064.4:p.Val3373=
NM_001081.3:c.10119C>A , LRG_540t1:c.10119C>A NP_001072.2:p.Val3373=
XM_011519709.1:c.6105C>A XP_011518011.1:p.Val2035=
XM_011519710.1:c.6081C>A XP_011518012.1:p.Val2027=
XM_011519711.1:c.5961C>A XP_011518013.1:p.Val1987=
XM_011519709.2:c.6105C>A XP_011518011.1:p.Val2035=
XM_011519710.2:c.6081C>A XP_011518012.1:p.Val2027=
XM_011519711.3:c.5961C>A XP_011518013.1:p.Val1987=
NM_001081.4:c.10119C>A MANE Select NP_001072.2:p.Val3373=