Canonical Allele Identifier: CA135696

Gene: CBL

Linked Data

• ClinVar Variation Id: 45196
• ClinVar RCV Id: RCV000038346 ; RCV000624342 ; RCV001270818 ; RCV001852803 ; RCV001789707 ; RCV002482996
• dbSNP Id: rs397517076
• gnomAD v4: 11-119278165-G-C
• COSMIC: COSM34063
• MyVariant Identifiers: chr11:g.119148875G>C (hg19) ; chr11:g.119278165G>C (hg38)
• MutSpliceDB: CA135696
• PubMed: PMID:19571318 ; PMID:20543203 ; PMID:20619386 ; PMID:20694012 ; PMID:22266821 ; PMID:25952305 ; PMID:26152360 ; PMID:28589114

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278165G>C , CM000673.2:g.119278165G>C	GRCh38
NC_000011.9:g.119148875G>C , CM000673.1:g.119148875G>C	GRCh37
NC_000011.8:g.118654085G>C	NCBI36
NG_016808.1:g.76886G>C , LRG_608:g.76886G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*548-1G>C	ENSP00000515005.1:n.*548-1G>C
ENST00000264033.6:c.1096-1G>C MANE Select	ENSP00000264033.3:n.1096-1G>C
ENST00000637974.1:c.1090-1G>C	ENSP00000490763.1:n.1090-1G>C
ENST00000264033.5:c.1096-1G>C	ENSP00000264033.3:n.1096-1G>C
ENST00000634586.1:c.1096-1G>C	ENSP00000489218.1:n.1096-1G>C
ENST00000634840.1:c.1096-1G>C	ENSP00000489324.1:n.1096-1G>C
NM_005188.3:c.1096-1G>C , LRG_608t1:c.1096-1G>C	NP_005179.2:n.1096-1G>C
XM_011543057.1:c.1096-1G>C	XP_011541359.1:n.1096-1G>C
NM_005188.4:c.1096-1G>C MANE Select	NP_005179.2:n.1096-1G>C