Canonical Allele Identifier: CA382912846
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1350751
ClinVar RCV Id: RCV002042103
dbSNP Id: rs1949905314

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278280T>A , CM000673.2:g.119278280T>A GRCh38
NC_000011.9:g.119148990T>A , CM000673.1:g.119148990T>A GRCh37
NC_000011.8:g.118654200T>A NCBI36
NG_016808.1:g.77001T>A , LRG_608:g.77001T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*662T>A ENSP00000515005.1:n.*662T>A
ENST00000264033.6:c.1210T>A MANE Select ENSP00000264033.3:p.Cys404Ser
ENST00000637974.1:c.1204T>A ENSP00000490763.1:p.Cys402Ser
ENST00000264033.5:c.1210T>A ENSP00000264033.3:p.Cys404Ser
ENST00000634586.1:c.1210T>A ENSP00000489218.1:p.Cys404Ser
ENST00000634840.1:c.1210T>A ENSP00000489324.1:p.Cys404Ser
NM_005188.3:c.1210T>A , LRG_608t1:c.1210T>A NP_005179.2:p.Cys404Ser
XM_011543057.1:c.1210T>A XP_011541359.1:p.Cys404Ser
NM_005188.4:c.1210T>A MANE Select NP_005179.2:p.Cys404Ser