Canonical Allele Identifier: CA382913872

Gene: CBL

Linked Data

• ClinVar Variation Id: 664109
• ClinVar RCV Id: RCV000822129
• dbSNP Id: rs1592401139
• COSMIC: COSM5008172
• MyVariant Identifiers: chr11:g.119149255T>G (hg19) ; chr11:g.119278545T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278545T>G , CM000673.2:g.119278545T>G	GRCh38
NC_000011.9:g.119149255T>G , CM000673.1:g.119149255T>G	GRCh37
NC_000011.8:g.118654465T>G	NCBI36
NG_016808.1:g.77266T>G , LRG_608:g.77266T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*715T>G	ENSP00000515005.1:n.*715T>G
ENST00000264033.6:c.1263T>G MANE Select	ENSP00000264033.3:p.Cys421Trp
ENST00000637974.1:c.1257T>G	ENSP00000490763.1:p.Cys419Trp
ENST00000264033.5:c.1263T>G	ENSP00000264033.3:p.Cys421Trp
ENST00000634586.1:c.1263T>G	ENSP00000489218.1:p.Cys421Trp
ENST00000634840.1:c.1263T>G	ENSP00000489324.1:p.Cys421Trp
NM_005188.3:c.1263T>G , LRG_608t1:c.1263T>G	NP_005179.2:p.Cys421Trp
XM_011543057.1:c.1263T>G	XP_011541359.1:p.Cys421Trp
NM_005188.4:c.1263T>G MANE Select	NP_005179.2:p.Cys421Trp