Canonical Allele Identifier: CA382912846

Gene: CBL

Linked Data

• ClinVar Variation Id: 1350751
• ClinVar RCV Id: RCV002042103
• dbSNP Id: rs1949905314
• COSMIC: COSM5945219
• MyVariant Identifiers: chr11:g.119148990T>A (hg19) ; chr11:g.119278280T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278280T>A , CM000673.2:g.119278280T>A	GRCh38
NC_000011.9:g.119148990T>A , CM000673.1:g.119148990T>A	GRCh37
NC_000011.8:g.118654200T>A	NCBI36
NG_016808.1:g.77001T>A , LRG_608:g.77001T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*662T>A	ENSP00000515005.1:n.*662T>A
ENST00000264033.6:c.1210T>A MANE Select	ENSP00000264033.3:p.Cys404Ser
ENST00000637974.1:c.1204T>A	ENSP00000490763.1:p.Cys402Ser
ENST00000264033.5:c.1210T>A	ENSP00000264033.3:p.Cys404Ser
ENST00000634586.1:c.1210T>A	ENSP00000489218.1:p.Cys404Ser
ENST00000634840.1:c.1210T>A	ENSP00000489324.1:p.Cys404Ser
NM_005188.3:c.1210T>A , LRG_608t1:c.1210T>A	NP_005179.2:p.Cys404Ser
XM_011543057.1:c.1210T>A	XP_011541359.1:p.Cys404Ser
NM_005188.4:c.1210T>A MANE Select	NP_005179.2:p.Cys404Ser