Canonical Allele Identifier: CA5423816
Community Standard Title: NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
Gene: CUBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16933123G>A , CM000672.2:g.16933123G>A GRCh38
NC_000010.10:g.16975122G>A , CM000672.1:g.16975122G>A GRCh37
NC_000010.9:g.17015128G>A NCBI36
NG_008967.1:g.201695C>T , LRG_540:g.201695C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001081.4:c.6088C>T MANE Select NP_001072.2:p.Arg2030Ter
ENST00000377833.10:c.6088C>T MANE Select ENSP00000367064.4:p.Arg2030Ter
NM_001081.3:c.6088C>T , LRG_540t1:c.6088C>T NP_001072.2:p.Arg2030Ter
ENST00000377833.8:c.6088C>T ENSP00000367064.4:p.Arg2030Ter
XM_011519708.1:c.6088C>T XP_011518010.1:p.Arg2030Ter
XM_011519708.2:c.6088C>T XP_011518010.1:p.Arg2030Ter
XM_011519709.1:c.2074C>T XP_011518011.1:p.Arg692Ter
XM_011519709.2:c.2074C>T XP_011518011.1:p.Arg692Ter
XM_011519710.1:c.2050C>T XP_011518012.1:p.Arg684Ter
XM_011519710.2:c.2050C>T XP_011518012.1:p.Arg684Ter
XM_011519711.1:c.1930C>T XP_011518013.1:p.Arg644Ter
XM_011519711.3:c.1930C>T XP_011518013.1:p.Arg644Ter