Canonical Allele Identifier: CA5423783
Community Standard Title: NM_001081.4(CUBN):c.6145C>G (p.Gln2049Glu)
Gene: CUBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16928283G>C , CM000672.2:g.16928283G>C GRCh38
NC_000010.10:g.16970282G>C , CM000672.1:g.16970282G>C GRCh37
NC_000010.9:g.17010288G>C NCBI36
NG_008967.1:g.206535C>G , LRG_540:g.206535C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001081.4:c.6145C>G MANE Select NP_001072.2:p.Gln2049Glu
ENST00000377833.10:c.6145C>G MANE Select ENSP00000367064.4:p.Gln2049Glu
NM_001081.3:c.6145C>G , LRG_540t1:c.6145C>G NP_001072.2:p.Gln2049Glu
ENST00000377833.8:c.6145C>G ENSP00000367064.4:p.Gln2049Glu
XM_011519708.1:c.6145C>G XP_011518010.1:p.Gln2049Glu
XM_011519708.2:c.6145C>G XP_011518010.1:p.Gln2049Glu
XM_011519709.1:c.2131C>G XP_011518011.1:p.Gln711Glu
XM_011519709.2:c.2131C>G XP_011518011.1:p.Gln711Glu
XM_011519710.1:c.2107C>G XP_011518012.1:p.Gln703Glu
XM_011519710.2:c.2107C>G XP_011518012.1:p.Gln703Glu
XM_011519711.1:c.1987C>G XP_011518013.1:p.Gln663Glu
XM_011519711.3:c.1987C>G XP_011518013.1:p.Gln663Glu