Canonical Allele Identifier: CA5424110
Gene: CUBN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16948498G>A , CM000672.2:g.16948498G>A GRCh38
NC_000010.10:g.16990497G>A , CM000672.1:g.16990497G>A GRCh37
NC_000010.9:g.17030503G>A NCBI36
NG_008967.1:g.186320C>T , LRG_540:g.186320C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.5189C>T MANE Select ENSP00000367064.4:p.Thr1730Met
ENST00000377833.8:c.5189C>T ENSP00000367064.4:p.Thr1730Met
NM_001081.3:c.5189C>T , LRG_540t1:c.5189C>T NP_001072.2:p.Thr1730Met
XM_011519708.1:c.5189C>T XP_011518010.1:p.Thr1730Met
XM_011519709.1:c.1175C>T XP_011518011.1:p.Thr392Met
XM_011519710.1:c.1151C>T XP_011518012.1:p.Thr384Met
XM_011519711.1:c.1031C>T XP_011518013.1:p.Thr344Met
XM_011519708.2:c.5189C>T XP_011518010.1:p.Thr1730Met
XM_011519709.2:c.1175C>T XP_011518011.1:p.Thr392Met
XM_011519710.2:c.1151C>T XP_011518012.1:p.Thr384Met
XM_011519711.3:c.1031C>T XP_011518013.1:p.Thr344Met
NM_001081.4:c.5189C>T MANE Select NP_001072.2:p.Thr1730Met