Canonical Allele Identifier: CA5423013
Gene: CUBN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16899115C>T , CM000672.2:g.16899115C>T GRCh38
NC_000010.10:g.16941114C>T , CM000672.1:g.16941114C>T GRCh37
NC_000010.9:g.16981120C>T NCBI36
NG_008967.1:g.235703G>A , LRG_540:g.235703G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.8479G>A MANE Select ENSP00000367064.4:p.Glu2827Lys
ENST00000377833.8:c.8479G>A ENSP00000367064.4:p.Glu2827Lys
NM_001081.3:c.8479G>A , LRG_540t1:c.8479G>A NP_001072.2:p.Glu2827Lys
XM_011519708.1:c.8479G>A XP_011518010.1:p.Glu2827Lys
XM_011519709.1:c.4465G>A XP_011518011.1:p.Glu1489Lys
XM_011519710.1:c.4441G>A XP_011518012.1:p.Glu1481Lys
XM_011519711.1:c.4321G>A XP_011518013.1:p.Glu1441Lys
XM_011519708.2:c.8479G>A XP_011518010.1:p.Glu2827Lys
XM_011519709.2:c.4465G>A XP_011518011.1:p.Glu1489Lys
XM_011519710.2:c.4441G>A XP_011518012.1:p.Glu1481Lys
XM_011519711.3:c.4321G>A XP_011518013.1:p.Glu1441Lys
NM_001081.4:c.8479G>A MANE Select NP_001072.2:p.Glu2827Lys