Canonical Allele Identifier: CA5424158
Gene: CUBN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16950012G>A , CM000672.2:g.16950012G>A GRCh38
NC_000010.10:g.16992011G>A , CM000672.1:g.16992011G>A GRCh37
NC_000010.9:g.17032017G>A NCBI36
NG_008967.1:g.184806C>T , LRG_540:g.184806C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.5069C>T MANE Select ENSP00000367064.4:p.Ala1690Val
ENST00000377833.8:c.5069C>T ENSP00000367064.4:p.Ala1690Val
NM_001081.3:c.5069C>T , LRG_540t1:c.5069C>T NP_001072.2:p.Ala1690Val
XM_011519708.1:c.5069C>T XP_011518010.1:p.Ala1690Val
XM_011519709.1:c.1055C>T XP_011518011.1:p.Ala352Val
XM_011519710.1:c.1031C>T XP_011518012.1:p.Ala344Val
XM_011519711.1:c.911C>T XP_011518013.1:p.Ala304Val
XM_011519708.2:c.5069C>T XP_011518010.1:p.Ala1690Val
XM_011519709.2:c.1055C>T XP_011518011.1:p.Ala352Val
XM_011519710.2:c.1031C>T XP_011518012.1:p.Ala344Val
XM_011519711.3:c.911C>T XP_011518013.1:p.Ala304Val
NM_001081.4:c.5069C>T MANE Select NP_001072.2:p.Ala1690Val