Canonical Allele Identifier: CA128665
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 29822
ClinVar RCV Id: RCV000022698 RCV000420743 RCV001561040 RCV001857355
dbSNP Id: rs387906664
gnomAD v4: 11-119278220-T-C
COSMIC: COSM34057
MyVariant Identifiers: chr11:g.119148930T>C (hg19) chr11:g.119278220T>C (hg38)
PubMed: PMID:20694012 PMID:23696637
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278220T>C , CM000673.2:g.119278220T>C GRCh38
NC_000011.9:g.119148930T>C , CM000673.1:g.119148930T>C GRCh37
NC_000011.8:g.118654140T>C NCBI36
NG_016808.1:g.76941T>C , LRG_608:g.76941T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700472.1:c.*602T>C ENSP00000515005.1:n.*602T>C
ENST00000264033.6:c.1150T>C MANE Select ENSP00000264033.3:p.Cys384Arg
ENST00000637974.1:c.1144T>C ENSP00000490763.1:p.Cys382Arg
ENST00000264033.5:c.1150T>C ENSP00000264033.3:p.Cys384Arg
ENST00000634586.1:c.1150T>C ENSP00000489218.1:p.Cys384Arg
ENST00000634840.1:c.1150T>C ENSP00000489324.1:p.Cys384Arg
NM_005188.3:c.1150T>C , LRG_608t1:c.1150T>C NP_005179.2:p.Cys384Arg
XM_011543057.1:c.1150T>C XP_011541359.1:p.Cys384Arg
NM_005188.4:c.1150T>C MANE Select NP_005179.2:p.Cys384Arg
Search 100 bp 5'
Search 100 bp 3'