Canonical Allele Identifier: CA382913759

Gene: CBL

Linked Data

• ClinVar Variation Id: 1334232
• ClinVar RCV Id: RCV001813647 ; RCV001869614
• dbSNP Id: rs1949907918
• COSMIC: COSM1234989
• MyVariant Identifiers: chr11:g.119149238T>A (hg19) ; chr11:g.119278528T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278528T>A , CM000673.2:g.119278528T>A	GRCh38
NC_000011.9:g.119149238T>A , CM000673.1:g.119149238T>A	GRCh37
NC_000011.8:g.118654448T>A	NCBI36
NG_016808.1:g.77249T>A , LRG_608:g.77249T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*698T>A	ENSP00000515005.1:n.*698T>A
ENST00000264033.6:c.1246T>A MANE Select	ENSP00000264033.3:p.Cys416Ser
ENST00000637974.1:c.1240T>A	ENSP00000490763.1:p.Cys414Ser
ENST00000264033.5:c.1246T>A	ENSP00000264033.3:p.Cys416Ser
ENST00000634586.1:c.1246T>A	ENSP00000489218.1:p.Cys416Ser
ENST00000634840.1:c.1246T>A	ENSP00000489324.1:p.Cys416Ser
NM_005188.3:c.1246T>A , LRG_608t1:c.1246T>A	NP_005179.2:p.Cys416Ser
XM_011543057.1:c.1246T>A	XP_011541359.1:p.Cys416Ser
NM_005188.4:c.1246T>A MANE Select	NP_005179.2:p.Cys416Ser