Canonical Allele Identifier: CA128671

Gene: CBL

Linked Data

• ClinVar Variation Id: 29824
• ClinVar RCV Id: RCV000022700 ; RCV000211127 ; RCV002223763
• dbSNP Id: rs387906666
• gnomAD v4: 11-119278182-A-G
• COSMIC: COSM34054
• MyVariant Identifiers: chr11:g.119148892A>G (hg19) ; chr11:g.119278182A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278182A>G , CM000673.2:g.119278182A>G	GRCh38
NC_000011.9:g.119148892A>G , CM000673.1:g.119148892A>G	GRCh37
NC_000011.8:g.118654102A>G	NCBI36
NG_016808.1:g.76903A>G , LRG_608:g.76903A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700472.1:c.*564A>G	ENSP00000515005.1:n.*564A>G
ENST00000264033.6:c.1112A>G MANE Select	ENSP00000264033.3:p.Tyr371Cys
ENST00000637974.1:c.1106A>G	ENSP00000490763.1:p.Tyr369Cys
ENST00000264033.5:c.1112A>G	ENSP00000264033.3:p.Tyr371Cys
ENST00000634586.1:c.1112A>G	ENSP00000489218.1:p.Tyr371Cys
ENST00000634840.1:c.1112A>G	ENSP00000489324.1:p.Tyr371Cys
NM_005188.3:c.1112A>G , LRG_608t1:c.1112A>G	NP_005179.2:p.Tyr371Cys
XM_011543057.1:c.1112A>G	XP_011541359.1:p.Tyr371Cys
NM_005188.4:c.1112A>G MANE Select	NP_005179.2:p.Tyr371Cys