Canonical Allele Identifier: CA5424151
Community Standard Title: NM_001081.4(CUBN):c.5078G>A (p.Arg1693Gln)
Gene: CUBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16950003C>T , CM000672.2:g.16950003C>T GRCh38
NC_000010.10:g.16992002C>T , CM000672.1:g.16992002C>T GRCh37
NC_000010.9:g.17032008C>T NCBI36
NG_008967.1:g.184815G>A , LRG_540:g.184815G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001081.4:c.5078G>A MANE Select NP_001072.2:p.Arg1693Gln
ENST00000377833.10:c.5078G>A MANE Select ENSP00000367064.4:p.Arg1693Gln
NM_001081.3:c.5078G>A , LRG_540t1:c.5078G>A NP_001072.2:p.Arg1693Gln
ENST00000377833.8:c.5078G>A ENSP00000367064.4:p.Arg1693Gln
XM_011519708.1:c.5078G>A XP_011518010.1:p.Arg1693Gln
XM_011519708.2:c.5078G>A XP_011518010.1:p.Arg1693Gln
XM_011519709.1:c.1064G>A XP_011518011.1:p.Arg355Gln
XM_011519709.2:c.1064G>A XP_011518011.1:p.Arg355Gln
XM_011519710.1:c.1040G>A XP_011518012.1:p.Arg347Gln
XM_011519710.2:c.1040G>A XP_011518012.1:p.Arg347Gln
XM_011519711.1:c.920G>A XP_011518013.1:p.Arg307Gln
XM_011519711.3:c.920G>A XP_011518013.1:p.Arg307Gln