Canonical Allele Identifier: CA382913870
Gene: CBL HGNC NCBI

Linked Data

dbSNP Id: rs2135304470
MyVariant Identifiers: chr11:g.119149254G>A (hg19) chr11:g.119278544G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278544G>A , CM000673.2:g.119278544G>A GRCh38
NC_000011.9:g.119149254G>A , CM000673.1:g.119149254G>A GRCh37
NC_000011.8:g.118654464G>A NCBI36
NG_016808.1:g.77265G>A , LRG_608:g.77265G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*714G>A ENSP00000515005.1:n.*714G>A
ENST00000264033.6:c.1262G>A MANE Select ENSP00000264033.3:p.Cys421Tyr
ENST00000637974.1:c.1256G>A ENSP00000490763.1:p.Cys419Tyr
ENST00000264033.5:c.1262G>A ENSP00000264033.3:p.Cys421Tyr
ENST00000634586.1:c.1262G>A ENSP00000489218.1:p.Cys421Tyr
ENST00000634840.1:c.1262G>A ENSP00000489324.1:p.Cys421Tyr
NM_005188.3:c.1262G>A , LRG_608t1:c.1262G>A NP_005179.2:p.Cys421Tyr
XM_011543057.1:c.1262G>A XP_011541359.1:p.Cys421Tyr
NM_005188.4:c.1262G>A MANE Select NP_005179.2:p.Cys421Tyr
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