Canonical Allele Identifier: CA5423894
Gene: CUBN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16937678G>T , CM000672.2:g.16937678G>T GRCh38
NC_000010.10:g.16979677G>T , CM000672.1:g.16979677G>T GRCh37
NC_000010.9:g.17019683G>T NCBI36
NG_008967.1:g.197140C>A , LRG_540:g.197140C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.5840C>A MANE Select ENSP00000367064.4:p.Ser1947Tyr
ENST00000377833.8:c.5840C>A ENSP00000367064.4:p.Ser1947Tyr
NM_001081.3:c.5840C>A , LRG_540t1:c.5840C>A NP_001072.2:p.Ser1947Tyr
XM_011519708.1:c.5840C>A XP_011518010.1:p.Ser1947Tyr
XM_011519709.1:c.1826C>A XP_011518011.1:p.Ser609Tyr
XM_011519710.1:c.1802C>A XP_011518012.1:p.Ser601Tyr
XM_011519711.1:c.1682C>A XP_011518013.1:p.Ser561Tyr
XM_011519708.2:c.5840C>A XP_011518010.1:p.Ser1947Tyr
XM_011519709.2:c.1826C>A XP_011518011.1:p.Ser609Tyr
XM_011519710.2:c.1802C>A XP_011518012.1:p.Ser601Tyr
XM_011519711.3:c.1682C>A XP_011518013.1:p.Ser561Tyr
NM_001081.4:c.5840C>A MANE Select NP_001072.2:p.Ser1947Tyr