Canonical Allele Identifier: CA2003905197
Gene: CBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277782C= , CM000673.2:g.119277782C= GRCh38
NC_000011.9:g.119148492C= , CM000673.1:g.119148492C= GRCh37
NC_000011.8:g.118653702C= NCBI36
NG_016808.1:g.76503C= , LRG_608:g.76503C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*485C= ENSP00000515005.1:n.*485C=
ENST00000264033.6:c.1033C= MANE Select ENSP00000264033.3:p.Gln345=
ENST00000637974.1:c.1027C= ENSP00000490763.1:p.Gln343=
ENST00000264033.5:c.1033C= ENSP00000264033.3:p.Gln345=
ENST00000634586.1:c.1033C= ENSP00000489218.1:p.Gln345=
ENST00000634840.1:c.1033C= ENSP00000489324.1:p.Gln345=
NM_005188.3:c.1033C= , LRG_608t1:c.1033C= NP_005179.2:p.Gln345=
XM_011543057.1:c.1033C= XP_011541359.1:p.Gln345=
NM_005188.4:c.1033C= MANE Select NP_005179.2:p.Gln345=