Canonical Allele Identifier: CA382913844

Gene: CBL

Linked Data

• ClinVar Variation Id: 2065458
• ClinVar RCV Id: RCV002929074
• dbSNP Id: rs267606708
• gnomAD v4: 11-119278541-G-C
• COSMIC: COSM249797
• MyVariant Identifiers: chr11:g.119149251G>C (hg19) ; chr11:g.119278541G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278541G>C , CM000673.2:g.119278541G>C	GRCh38
NC_000011.9:g.119149251G>C , CM000673.1:g.119149251G>C	GRCh37
NC_000011.8:g.118654461G>C	NCBI36
NG_016808.1:g.77262G>C , LRG_608:g.77262G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700472.1:c.*711G>C	ENSP00000515005.1:n.*711G>C
ENST00000264033.6:c.1259G>C MANE Select	ENSP00000264033.3:p.Arg420Pro
ENST00000637974.1:c.1253G>C	ENSP00000490763.1:p.Arg418Pro
ENST00000264033.5:c.1259G>C	ENSP00000264033.3:p.Arg420Pro
ENST00000634586.1:c.1259G>C	ENSP00000489218.1:p.Arg420Pro
ENST00000634840.1:c.1259G>C	ENSP00000489324.1:p.Arg420Pro
NM_005188.3:c.1259G>C , LRG_608t1:c.1259G>C	NP_005179.2:p.Arg420Pro
XM_011543057.1:c.1259G>C	XP_011541359.1:p.Arg420Pro
NM_005188.4:c.1259G>C MANE Select	NP_005179.2:p.Arg420Pro