Canonical Allele Identifier: CA376119799
Gene: CUBN HGNC NCBI

Linked Data

ClinVar Variation Id: 880057
ClinVar RCV Id: RCV001108057
dbSNP Id: rs2131299558

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16828827G>A , CM000672.2:g.16828827G>A GRCh38
NC_000010.10:g.16870826G>A , CM000672.1:g.16870826G>A GRCh37
NC_000010.9:g.16910832G>A NCBI36
NG_008967.1:g.305991C>T , LRG_540:g.305991C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377833.10:c.10742C>T MANE Select ENSP00000367064.4:p.Ser3581Phe
ENST00000377833.8:c.10742C>T ENSP00000367064.4:p.Ser3581Phe
NM_001081.3:c.10742C>T , LRG_540t1:c.10742C>T NP_001072.2:p.Ser3581Phe
XM_011519709.1:c.6728C>T XP_011518011.1:p.Ser2243Phe
XM_011519710.1:c.6704C>T XP_011518012.1:p.Ser2235Phe
XM_011519711.1:c.6584C>T XP_011518013.1:p.Ser2195Phe
XM_011519709.2:c.6728C>T XP_011518011.1:p.Ser2243Phe
XM_011519710.2:c.6704C>T XP_011518012.1:p.Ser2235Phe
XM_011519711.3:c.6584C>T XP_011518013.1:p.Ser2195Phe
NM_001081.4:c.10742C>T MANE Select NP_001072.2:p.Ser3581Phe