Canonical Allele Identifier: CA183197

Gene: CBL

Linked Data

• ClinVar Variation Id: 178870
• ClinVar RCV Id: RCV000155642 ; RCV001265817 ; RCV002514998
• dbSNP Id: rs727504504
• gnomAD v4: 11-119278169-C-A
• MyVariant Identifiers: chr11:g.119148879C>A (hg19) ; chr11:g.119278169C>A (hg38)
• PubMed: PMID:19620960 ; PMID:20619386 ; PMID:20644105

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278169C>A , CM000673.2:g.119278169C>A	GRCh38
NC_000011.9:g.119148879C>A , CM000673.1:g.119148879C>A	GRCh37
NC_000011.8:g.118654089C>A	NCBI36
NG_016808.1:g.76890C>A , LRG_608:g.76890C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*551C>A	ENSP00000515005.1:n.*551C>A
ENST00000264033.6:c.1099C>A MANE Select	ENSP00000264033.3:p.Gln367Lys
ENST00000637974.1:c.1093C>A	ENSP00000490763.1:p.Gln365Lys
ENST00000264033.5:c.1099C>A	ENSP00000264033.3:p.Gln367Lys
ENST00000634586.1:c.1099C>A	ENSP00000489218.1:p.Gln367Lys
ENST00000634840.1:c.1099C>A	ENSP00000489324.1:p.Gln367Lys
NM_005188.3:c.1099C>A , LRG_608t1:c.1099C>A	NP_005179.2:p.Gln367Lys
XM_011543057.1:c.1099C>A	XP_011541359.1:p.Gln367Lys
NM_005188.4:c.1099C>A MANE Select	NP_005179.2:p.Gln367Lys